Name: rs6189
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs6189

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:143400774 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: C>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.014889 (3941/264690, TOPMED)
T=0.023647 (4114/173978, ALFA)
T=0.016848 (2363/140250, GnomAD) (+ 20 more)
T=0.017837 (2163/121268, ExAC)
T=0.00586 (461/78698, PAGE_STUDY)
T=0.02091 (272/13006, GO-ESP)
T=0.0097 (62/6404, 1000G_30x)
T=0.0106 (53/5008, 1000G)
T=0.0223 (100/4480, Estonian)
T=0.0304 (117/3854, ALSPAC)
T=0.0270 (100/3708, TWINSUK)
T=0.0000 (0/2922, KOREAN)
T=0.0258 (29/1124, Daghestan)
T=0.027 (27/998, GoNL)
T=0.028 (17/600, NorthernSweden)
T=0.013 (7/534, MGP)
T=0.010 (5/526, PharmGKB)
T=0.023 (7/304, FINRISK)
T=0.03 (1/40, GENOME_DK)
C=0.50 (10/20, SGDP_PRJ)
T=0.50 (10/20, SGDP_PRJ)
C=0.5 (2/4, Siberian)
T=0.5 (2/4, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: NR3C1 : Missense Variant
Publications: 47 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	190274	C=0.976881	T=0.023119
European	Sub	158750	C=0.974369	T=0.025631
African	Sub	13672	C=0.99532	T=0.00468
African Others	Sub	484	C=1.000	T=0.000
African American	Sub	13188	C=0.99515	T=0.00485
Asian	Sub	3426	C=0.9997	T=0.0003
East Asian	Sub	2768	C=1.0000	T=0.0000
Other Asian	Sub	658	C=0.998	T=0.002
Latin American 1	Sub	812	C=0.991	T=0.009
Latin American 2	Sub	1036	C=0.9913	T=0.0087
South Asian	Sub	298	C=0.977	T=0.023
Other	Sub	12280	C=0.98029	T=0.01971

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.985111	T=0.014889
Allele Frequency Aggregator	Total	Global	173978	C=0.976353	T=0.023647
Allele Frequency Aggregator	European	Sub	148724	C=0.974221	T=0.025779
Allele Frequency Aggregator	Other	Sub	10844	C=0.98008	T=0.01992
Allele Frequency Aggregator	African	Sub	8838	C=0.9955	T=0.0045
Allele Frequency Aggregator	Asian	Sub	3426	C=0.9997	T=0.0003
Allele Frequency Aggregator	Latin American 2	Sub	1036	C=0.9913	T=0.0087
Allele Frequency Aggregator	Latin American 1	Sub	812	C=0.991	T=0.009
Allele Frequency Aggregator	South Asian	Sub	298	C=0.977	T=0.023
gnomAD - Genomes	Global	Study-wide	140250	C=0.983152	T=0.016848
gnomAD - Genomes	European	Sub	75930	C=0.97379	T=0.02621
gnomAD - Genomes	African	Sub	42046	C=0.99510	T=0.00490
gnomAD - Genomes	American	Sub	13668	C=0.99356	T=0.00644
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.9822	T=0.0178
gnomAD - Genomes	East Asian	Sub	3134	C=1.0000	T=0.0000
gnomAD - Genomes	Other	Sub	2150	C=0.9907	T=0.0093
ExAC	Global	Study-wide	121268	C=0.982163	T=0.017837
ExAC	Europe	Sub	73270	C=0.97565	T=0.02435
ExAC	Asian	Sub	25140	C=0.99025	T=0.00975
ExAC	American	Sub	11560	C=0.99412	T=0.00588
ExAC	African	Sub	10392	C=0.99509	T=0.00491
ExAC	Other	Sub	906	C=0.983	T=0.017
The PAGE Study	Global	Study-wide	78698	C=0.99414	T=0.00586
The PAGE Study	AfricanAmerican	Sub	32516	C=0.99502	T=0.00498
The PAGE Study	Mexican	Sub	10808	C=0.99288	T=0.00712
The PAGE Study	Asian	Sub	8318	C=0.9998	T=0.0002
The PAGE Study	PuertoRican	Sub	7918	C=0.9941	T=0.0059
The PAGE Study	NativeHawaiian	Sub	4534	C=0.9938	T=0.0062
The PAGE Study	Cuban	Sub	4230	C=0.9905	T=0.0095
The PAGE Study	Dominican	Sub	3828	C=0.9919	T=0.0081
The PAGE Study	CentralAmerican	Sub	2450	C=0.9927	T=0.0073
The PAGE Study	SouthAmerican	Sub	1982	C=0.9934	T=0.0066
The PAGE Study	NativeAmerican	Sub	1258	C=0.9793	T=0.0207
The PAGE Study	SouthAsian	Sub	856	C=0.980	T=0.020
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.97909	T=0.02091
GO Exome Sequencing Project	European American	Sub	8600	C=0.9707	T=0.0293
GO Exome Sequencing Project	African American	Sub	4406	C=0.9955	T=0.0045
1000Genomes_30x	Global	Study-wide	6404	C=0.9903	T=0.0097
1000Genomes_30x	African	Sub	1786	C=1.0000	T=0.0000
1000Genomes_30x	Europe	Sub	1266	C=0.9724	T=0.0276
1000Genomes_30x	South Asian	Sub	1202	C=0.9842	T=0.0158
1000Genomes_30x	East Asian	Sub	1170	C=0.9991	T=0.0009
1000Genomes_30x	American	Sub	980	C=0.993	T=0.007
1000Genomes	Global	Study-wide	5008	C=0.9894	T=0.0106
1000Genomes	African	Sub	1322	C=1.0000	T=0.0000
1000Genomes	East Asian	Sub	1008	C=0.9990	T=0.0010
1000Genomes	Europe	Sub	1006	C=0.9702	T=0.0298
1000Genomes	South Asian	Sub	978	C=0.982	T=0.018
1000Genomes	American	Sub	694	C=0.994	T=0.006
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9777	T=0.0223
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9696	T=0.0304
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9730	T=0.0270
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=1.0000	T=0.0000
Genome-wide autozygosity in Daghestan	Global	Study-wide	1124	C=0.9742	T=0.0258
Genome-wide autozygosity in Daghestan	Daghestan	Sub	624	C=0.968	T=0.032
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=1.000	T=0.000
Genome-wide autozygosity in Daghestan	Central Asia	Sub	120	C=1.000	T=0.000
Genome-wide autozygosity in Daghestan	Europe	Sub	106	C=0.991	T=0.009
Genome-wide autozygosity in Daghestan	South Asian	Sub	94	C=0.91	T=0.09
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=1.00	T=0.00
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.973	T=0.027
Northern Sweden	ACPOP	Study-wide	600	C=0.972	T=0.028
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.987	T=0.013
PharmGKB Aggregated	Global	Study-wide	526	C=0.990	T=0.010
PharmGKB Aggregated	PA162048949	Sub	526	C=0.990	T=0.010
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.977	T=0.023
The Danish reference pan genome	Danish	Study-wide	40	C=0.97	T=0.03
SGDP_PRJ	Global	Study-wide	20	C=0.50	T=0.50
Siberian	Global	Study-wide	4	C=0.5	T=0.5

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 5	NC_000005.10:g.143400774C>A
GRCh38.p14 chr 5	NC_000005.10:g.143400774C>T
GRCh37.p13 chr 5	NC_000005.9:g.142780339C>A
GRCh37.p13 chr 5	NC_000005.9:g.142780339C>T
NR3C1 RefSeqGene	NG_009062.1:g.39739G>T
NR3C1 RefSeqGene	NG_009062.1:g.39739G>A

Gene: NR3C1, nuclear receptor subfamily 3 group C member 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NR3C1 transcript variant 1	NM_001204258.2:c.-13=	N/A	5 Prime UTR Variant
NR3C1 transcript variant 1	NM_001204259.2:c.-190=	N/A	5 Prime UTR Variant
NR3C1 transcript variant 1	NM_001204260.2:c.-202=	N/A	5 Prime UTR Variant
NR3C1 transcript variant 1	NM_001204261.2:c.-226=	N/A	5 Prime UTR Variant
NR3C1 transcript variant 1	NM_001204262.2:c.-880=	N/A	5 Prime UTR Variant
NR3C1 transcript variant 1	NM_001204263.2:c.-925=	N/A	5 Prime UTR Variant
NR3C1 transcript variant 1	NM_001204264.2:c.-940=	N/A	5 Prime UTR Variant
NR3C1 transcript variant 2	NM_001018074.1:c.66G>T	E [GAG] > D [GAT]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_001018084.1:p.Glu22Asp	E (Glu) > D (Asp)	Missense Variant
NR3C1 transcript variant 2	NM_001018074.1:c.66G>A	E [GAG] > E [GAA]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_001018084.1:p.Glu22=	E (Glu) > E (Glu)	Synonymous Variant
NR3C1 transcript variant 3	NM_001018075.1:c.66G>T	E [GAG] > D [GAT]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_001018085.1:p.Glu22Asp	E (Glu) > D (Asp)	Missense Variant
NR3C1 transcript variant 3	NM_001018075.1:c.66G>A	E [GAG] > E [GAA]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_001018085.1:p.Glu22=	E (Glu) > E (Glu)	Synonymous Variant
NR3C1 transcript variant 5	NM_001018077.1:c.66G>T	E [GAG] > D [GAT]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_001018087.1:p.Glu22Asp	E (Glu) > D (Asp)	Missense Variant
NR3C1 transcript variant 5	NM_001018077.1:c.66G>A	E [GAG] > E [GAA]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_001018087.1:p.Glu22=	E (Glu) > E (Glu)	Synonymous Variant
NR3C1 transcript variant 14	NM_001364185.1:c.66G>T	E [GAG] > D [GAT]	Coding Sequence Variant
glucocorticoid receptor isoform gamma	NP_001351114.1:p.Glu22Asp	E (Glu) > D (Asp)	Missense Variant
NR3C1 transcript variant 14	NM_001364185.1:c.66G>A	E [GAG] > E [GAA]	Coding Sequence Variant
glucocorticoid receptor isoform gamma	NP_001351114.1:p.Glu22=	E (Glu) > E (Glu)	Synonymous Variant
NR3C1 transcript variant 11	NM_001364182.1:c.66G>T	E [GAG] > D [GAT]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_001351111.1:p.Glu22Asp	E (Glu) > D (Asp)	Missense Variant
NR3C1 transcript variant 11	NM_001364182.1:c.66G>A	E [GAG] > E [GAA]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_001351111.1:p.Glu22=	E (Glu) > E (Glu)	Synonymous Variant
NR3C1 transcript variant 1	NM_000176.3:c.66G>T	E [GAG] > D [GAT]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_000167.1:p.Glu22Asp	E (Glu) > D (Asp)	Missense Variant
NR3C1 transcript variant 1	NM_000176.3:c.66G>A	E [GAG] > E [GAA]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_000167.1:p.Glu22=	E (Glu) > E (Glu)	Synonymous Variant
NR3C1 transcript variant 9	NM_001364180.2:c.66G>T	E [GAG] > D [GAT]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_001351109.1:p.Glu22Asp	E (Glu) > D (Asp)	Missense Variant
NR3C1 transcript variant 9	NM_001364180.2:c.66G>A	E [GAG] > E [GAA]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_001351109.1:p.Glu22=	E (Glu) > E (Glu)	Synonymous Variant
NR3C1 transcript variant 12	NM_001364183.2:c.66G>T	E [GAG] > D [GAT]	Coding Sequence Variant
glucocorticoid receptor isoform gamma	NP_001351112.1:p.Glu22Asp	E (Glu) > D (Asp)	Missense Variant
NR3C1 transcript variant 12	NM_001364183.2:c.66G>A	E [GAG] > E [GAA]	Coding Sequence Variant
glucocorticoid receptor isoform gamma	NP_001351112.1:p.Glu22=	E (Glu) > E (Glu)	Synonymous Variant
NR3C1 transcript variant 10	NM_001364181.2:c.66G>T	E [GAG] > D [GAT]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_001351110.1:p.Glu22Asp	E (Glu) > D (Asp)	Missense Variant
NR3C1 transcript variant 10	NM_001364181.2:c.66G>A	E [GAG] > E [GAA]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_001351110.1:p.Glu22=	E (Glu) > E (Glu)	Synonymous Variant
NR3C1 transcript variant 13	NM_001364184.2:c.66G>T	E [GAG] > D [GAT]	Coding Sequence Variant
glucocorticoid receptor isoform gamma	NP_001351113.1:p.Glu22Asp	E (Glu) > D (Asp)	Missense Variant
NR3C1 transcript variant 13	NM_001364184.2:c.66G>A	E [GAG] > E [GAA]	Coding Sequence Variant
glucocorticoid receptor isoform gamma	NP_001351113.1:p.Glu22=	E (Glu) > E (Glu)	Synonymous Variant
NR3C1 transcript variant 4	NM_001018076.2:c.66G>T	E [GAG] > D [GAT]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_001018086.1:p.Glu22Asp	E (Glu) > D (Asp)	Missense Variant
NR3C1 transcript variant 4	NM_001018076.2:c.66G>A	E [GAG] > E [GAA]	Coding Sequence Variant
glucocorticoid receptor isoform alpha	NP_001018086.1:p.Glu22=	E (Glu) > E (Glu)	Synonymous Variant
NR3C1 transcript variant 6	NM_001020825.2:c.66G>T	E [GAG] > D [GAT]	Coding Sequence Variant
glucocorticoid receptor isoform beta	NP_001018661.1:p.Glu22Asp	E (Glu) > D (Asp)	Missense Variant
NR3C1 transcript variant 6	NM_001020825.2:c.66G>A	E [GAG] > E [GAA]	Coding Sequence Variant
glucocorticoid receptor isoform beta	NP_001018661.1:p.Glu22=	E (Glu) > E (Glu)	Synonymous Variant
NR3C1 transcript variant 7	NM_001024094.2:c.66G>T	E [GAG] > D [GAT]	Coding Sequence Variant
glucocorticoid receptor isoform gamma	NP_001019265.1:p.Glu22Asp	E (Glu) > D (Asp)	Missense Variant
NR3C1 transcript variant 7	NM_001024094.2:c.66G>A	E [GAG] > E [GAA]	Coding Sequence Variant
glucocorticoid receptor isoform gamma	NP_001019265.1:p.Glu22=	E (Glu) > E (Glu)	Synonymous Variant
NR3C1 transcript variant 8	NM_001204265.2:c.66G>T	E [GAG] > D [GAT]	Coding Sequence Variant
glucocorticoid receptor isoform GR-P	NP_001191194.1:p.Glu22Asp	E (Glu) > D (Asp)	Missense Variant
NR3C1 transcript variant 8	NM_001204265.2:c.66G>A	E [GAG] > E [GAA]	Coding Sequence Variant
glucocorticoid receptor isoform GR-P	NP_001191194.1:p.Glu22=	E (Glu) > E (Glu)	Synonymous Variant
NR3C1 transcript variant 15	NR_157096.2:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T (allele ID: 31193 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000017536.30	Glucocorticoid resistance, relative	Pathogenic
RCV000360936.4	Glucocorticoid resistance	Benign-Likely-Benign
RCV002055861.3	not provided	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	C=	A	T
GRCh38.p14 chr 5	NC_000005.10:g.143400774=	NC_000005.10:g.143400774C>A	NC_000005.10:g.143400774C>T
GRCh37.p13 chr 5	NC_000005.9:g.142780339=	NC_000005.9:g.142780339C>A	NC_000005.9:g.142780339C>T
NR3C1 RefSeqGene	NG_009062.1:g.39739=	NG_009062.1:g.39739G>T	NG_009062.1:g.39739G>A
NR3C1 transcript variant 1	NM_000176.3:c.66=	NM_000176.3:c.66G>T	NM_000176.3:c.66G>A
NR3C1 transcript variant 1	NM_000176.2:c.66=	NM_000176.2:c.66G>T	NM_000176.2:c.66G>A
NR3C1 transcript variant 7	NM_001024094.2:c.66=	NM_001024094.2:c.66G>T	NM_001024094.2:c.66G>A
NR3C1 transcript variant 7	NM_001024094.1:c.66=	NM_001024094.1:c.66G>T	NM_001024094.1:c.66G>A
NR3C1 transcript variant 1	NM_001204264.2:c.-940=	NM_001204264.2:c.-940G>T	NM_001204264.2:c.-940G>A
NR3C1 transcript variant 1	NM_001204264.1:c.-940=	NM_001204264.1:c.-940G>T	NM_001204264.1:c.-940G>A
NR3C1 transcript variant 1	NM_001204263.2:c.-925=	NM_001204263.2:c.-925G>T	NM_001204263.2:c.-925G>A
NR3C1 transcript variant 1	NM_001204263.1:c.-925=	NM_001204263.1:c.-925G>T	NM_001204263.1:c.-925G>A
NR3C1 transcript variant 1	NM_001204262.2:c.-880=	NM_001204262.2:c.-880G>T	NM_001204262.2:c.-880G>A
NR3C1 transcript variant 1	NM_001204262.1:c.-880=	NM_001204262.1:c.-880G>T	NM_001204262.1:c.-880G>A
NR3C1 transcript variant 1	NM_001204261.2:c.-226=	NM_001204261.2:c.-226G>T	NM_001204261.2:c.-226G>A
NR3C1 transcript variant 1	NM_001204261.1:c.-226=	NM_001204261.1:c.-226G>T	NM_001204261.1:c.-226G>A
NR3C1 transcript variant 1	NM_001204260.2:c.-202=	NM_001204260.2:c.-202G>T	NM_001204260.2:c.-202G>A
NR3C1 transcript variant 1	NM_001204260.1:c.-202=	NM_001204260.1:c.-202G>T	NM_001204260.1:c.-202G>A
NR3C1 transcript variant 1	NM_001204259.2:c.-190=	NM_001204259.2:c.-190G>T	NM_001204259.2:c.-190G>A
NR3C1 transcript variant 1	NM_001204259.1:c.-190=	NM_001204259.1:c.-190G>T	NM_001204259.1:c.-190G>A
NR3C1 transcript variant 1	NM_001204258.2:c.-13=	NM_001204258.2:c.-13G>T	NM_001204258.2:c.-13G>A
NR3C1 transcript variant 1	NM_001204258.1:c.-13=	NM_001204258.1:c.-13G>T	NM_001204258.1:c.-13G>A
NR3C1 transcript variant 12	NM_001364183.2:c.66=	NM_001364183.2:c.66G>T	NM_001364183.2:c.66G>A
NR3C1 transcript variant 12	NM_001364183.1:c.66=	NM_001364183.1:c.66G>T	NM_001364183.1:c.66G>A
NR3C1 transcript variant 10	NM_001364181.2:c.66=	NM_001364181.2:c.66G>T	NM_001364181.2:c.66G>A
NR3C1 transcript variant 10	NM_001364181.1:c.66=	NM_001364181.1:c.66G>T	NM_001364181.1:c.66G>A
NR3C1 transcript variant 9	NM_001364180.2:c.66=	NM_001364180.2:c.66G>T	NM_001364180.2:c.66G>A
NR3C1 transcript variant 9	NM_001364180.1:c.66=	NM_001364180.1:c.66G>T	NM_001364180.1:c.66G>A
NR3C1 transcript variant 13	NM_001364184.2:c.66=	NM_001364184.2:c.66G>T	NM_001364184.2:c.66G>A
NR3C1 transcript variant 13	NM_001364184.1:c.66=	NM_001364184.1:c.66G>T	NM_001364184.1:c.66G>A
NR3C1 transcript variant 4	NM_001018076.2:c.66=	NM_001018076.2:c.66G>T	NM_001018076.2:c.66G>A
NR3C1 transcript variant 4	NM_001018076.1:c.66=	NM_001018076.1:c.66G>T	NM_001018076.1:c.66G>A
NR3C1 transcript variant 6	NM_001020825.2:c.66=	NM_001020825.2:c.66G>T	NM_001020825.2:c.66G>A
NR3C1 transcript variant 6	NM_001020825.1:c.66=	NM_001020825.1:c.66G>T	NM_001020825.1:c.66G>A
NR3C1 transcript variant 8	NM_001204265.2:c.66=	NM_001204265.2:c.66G>T	NM_001204265.2:c.66G>A
NR3C1 transcript variant 8	NM_001204265.1:c.66=	NM_001204265.1:c.66G>T	NM_001204265.1:c.66G>A
NR3C1 transcript variant 5	NM_001018077.1:c.66=	NM_001018077.1:c.66G>T	NM_001018077.1:c.66G>A
NR3C1 transcript variant 14	NM_001364185.1:c.66=	NM_001364185.1:c.66G>T	NM_001364185.1:c.66G>A
NR3C1 transcript variant 11	NM_001364182.1:c.66=	NM_001364182.1:c.66G>T	NM_001364182.1:c.66G>A
NR3C1 transcript variant 2	NM_001018074.1:c.66=	NM_001018074.1:c.66G>T	NM_001018074.1:c.66G>A
NR3C1 transcript variant 3	NM_001018075.1:c.66=	NM_001018075.1:c.66G>T	NM_001018075.1:c.66G>A
glucocorticoid receptor isoform alpha	NP_000167.1:p.Glu22=	NP_000167.1:p.Glu22Asp	NP_000167.1:p.Glu22=
glucocorticoid receptor isoform gamma	NP_001019265.1:p.Glu22=	NP_001019265.1:p.Glu22Asp	NP_001019265.1:p.Glu22=
glucocorticoid receptor isoform gamma	NP_001351112.1:p.Glu22=	NP_001351112.1:p.Glu22Asp	NP_001351112.1:p.Glu22=
glucocorticoid receptor isoform alpha	NP_001351110.1:p.Glu22=	NP_001351110.1:p.Glu22Asp	NP_001351110.1:p.Glu22=
glucocorticoid receptor isoform alpha	NP_001351109.1:p.Glu22=	NP_001351109.1:p.Glu22Asp	NP_001351109.1:p.Glu22=
glucocorticoid receptor isoform gamma	NP_001351113.1:p.Glu22=	NP_001351113.1:p.Glu22Asp	NP_001351113.1:p.Glu22=
glucocorticoid receptor isoform alpha	NP_001018086.1:p.Glu22=	NP_001018086.1:p.Glu22Asp	NP_001018086.1:p.Glu22=
glucocorticoid receptor isoform beta	NP_001018661.1:p.Glu22=	NP_001018661.1:p.Glu22Asp	NP_001018661.1:p.Glu22=
glucocorticoid receptor isoform GR-P	NP_001191194.1:p.Glu22=	NP_001191194.1:p.Glu22Asp	NP_001191194.1:p.Glu22=
glucocorticoid receptor isoform alpha	NP_001018087.1:p.Glu22=	NP_001018087.1:p.Glu22Asp	NP_001018087.1:p.Glu22=
glucocorticoid receptor isoform gamma	NP_001351114.1:p.Glu22=	NP_001351114.1:p.Glu22Asp	NP_001351114.1:p.Glu22=
glucocorticoid receptor isoform alpha	NP_001351111.1:p.Glu22=	NP_001351111.1:p.Glu22Asp	NP_001351111.1:p.Glu22=
glucocorticoid receptor isoform alpha	NP_001018084.1:p.Glu22=	NP_001018084.1:p.Glu22Asp	NP_001018084.1:p.Glu22=
glucocorticoid receptor isoform alpha	NP_001018085.1:p.Glu22=	NP_001018085.1:p.Glu22Asp	NP_001018085.1:p.Glu22=

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

79 SubSNP, 23 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF-CSNP	ss7811	Sep 19, 2000 (52)
2	EGP_SNPS	ss14865728	Dec 05, 2003 (119)
3	ILLUMINA	ss75137989	Dec 06, 2007 (129)
4	RSG_UW	ss86211774	Mar 23, 2008 (129)
5	UUGC	ss102664198	Feb 05, 2009 (130)
6	PHARMGKB_PPII	ss105110606	Feb 05, 2009 (130)
7	1000GENOMES	ss109472596	Jan 24, 2009 (130)
8	KRIBB_YJKIM	ss119337796	Dec 01, 2009 (131)
9	ILLUMINA	ss173989801	Jul 04, 2010 (132)
10	1000GENOMES	ss233177998	Jul 14, 2010 (132)
11	NHLBI-ESP	ss342192853	May 09, 2011 (134)
12	ILLUMINA	ss483735877	May 04, 2012 (137)
13	ILLUMINA	ss484950594	May 04, 2012 (137)
14	1000GENOMES	ss490912774	May 04, 2012 (137)
15	CLINSEQ_SNP	ss491875137	May 04, 2012 (137)
16	ILLUMINA	ss535936231	Sep 08, 2015 (146)
17	ILLUMINA	ss779515274	Sep 08, 2015 (146)
18	ILLUMINA	ss782311487	Sep 08, 2015 (146)
19	ILLUMINA	ss834985687	Sep 08, 2015 (146)
20	EVA-GONL	ss982205738	Aug 21, 2014 (142)
21	1000GENOMES	ss1317539291	Aug 21, 2014 (142)
22	HAMMER_LAB	ss1397429719	Sep 08, 2015 (146)
23	OMIM-CURATED-RECORDS	ss1505810956	Dec 08, 2014 (142)
24	EVA_GENOME_DK	ss1581380988	Apr 01, 2015 (144)
25	EVA_FINRISK	ss1584041667	Apr 01, 2015 (144)
26	EVA_DECODE	ss1591735738	Apr 01, 2015 (144)
27	EVA_UK10K_ALSPAC	ss1614185168	Apr 01, 2015 (144)
28	EVA_UK10K_TWINSUK	ss1657179201	Apr 01, 2015 (144)
29	EVA_EXAC	ss1688018862	Apr 01, 2015 (144)
30	EVA_MGP	ss1711100968	Apr 01, 2015 (144)
31	ILLUMINA	ss1946158045	Feb 12, 2016 (147)
32	ILLUMINA	ss1958830249	Feb 12, 2016 (147)
33	GENOMED	ss1970224803	Jul 19, 2016 (147)
34	JJLAB	ss2023336077	Sep 14, 2016 (149)
35	USC_VALOUEV	ss2151494857	Dec 20, 2016 (150)
36	HUMAN_LONGEVITY	ss2278834823	Dec 20, 2016 (150)
37	ILLUMINA	ss2634349964	Nov 08, 2017 (151)
38	ILLUMINA	ss2634349965	Nov 08, 2017 (151)
39	ILLUMINA	ss2711050776	Nov 08, 2017 (151)
40	GNOMAD	ss2735324419	Nov 08, 2017 (151)
41	GNOMAD	ss2747480195	Nov 08, 2017 (151)
42	GNOMAD	ss2831709330	Nov 08, 2017 (151)
43	AFFY	ss2985338255	Nov 08, 2017 (151)
44	AFFY	ss2985969186	Nov 08, 2017 (151)
45	SWEGEN	ss2997921571	Nov 08, 2017 (151)
46	ILLUMINA	ss3022537938	Nov 08, 2017 (151)
47	ILLUMINA	ss3625885381	Oct 12, 2018 (152)
48	ILLUMINA	ss3629359923	Oct 12, 2018 (152)
49	ILLUMINA	ss3632273417	Oct 12, 2018 (152)
50	ILLUMINA	ss3638585558	Oct 12, 2018 (152)
51	ILLUMINA	ss3643529206	Oct 12, 2018 (152)
52	ILLUMINA	ss3644891042	Oct 12, 2018 (152)
53	ILLUMINA	ss3653040791	Oct 12, 2018 (152)
54	ILLUMINA	ss3654110425	Oct 12, 2018 (152)
55	EGCUT_WGS	ss3665838790	Jul 13, 2019 (153)
56	EVA_DECODE	ss3715857525	Jul 13, 2019 (153)
57	ILLUMINA	ss3726277909	Jul 13, 2019 (153)
58	ACPOP	ss3732884471	Jul 13, 2019 (153)
59	ILLUMINA	ss3744260965	Jul 13, 2019 (153)
60	PAGE_CC	ss3771236955	Jul 13, 2019 (153)
61	KHV_HUMAN_GENOMES	ss3807328980	Jul 13, 2019 (153)
62	EVA	ss3824125298	Apr 26, 2020 (154)
63	EVA	ss3825682398	Apr 26, 2020 (154)
64	SGDP_PRJ	ss3863139384	Apr 26, 2020 (154)
65	KRGDB	ss3909805776	Apr 26, 2020 (154)
66	EVA	ss3986322961	Apr 26, 2021 (155)
67	TOPMED	ss4681565076	Apr 26, 2021 (155)
68	EVA	ss5237644442	Oct 17, 2022 (156)
69	1000G_HIGH_COVERAGE	ss5266125659	Oct 17, 2022 (156)
70	EVA	ss5361483396	Oct 17, 2022 (156)
71	HUGCELL_USP	ss5464062671	Oct 17, 2022 (156)
72	1000G_HIGH_COVERAGE	ss5550919594	Oct 17, 2022 (156)
73	SANFORD_IMAGENETICS	ss5639039004	Oct 17, 2022 (156)
74	EVA	ss5835752198	Oct 17, 2022 (156)
75	EVA	ss5848067903	Oct 17, 2022 (156)
76	EVA	ss5848637068	Oct 17, 2022 (156)
77	EVA	ss5896649935	Oct 17, 2022 (156)
78	EVA	ss5967515285	Oct 17, 2022 (156)
79	EVA	ss5979757116	Oct 17, 2022 (156)
80	1000Genomes	NC_000005.9 - 142780339	Oct 12, 2018 (152)
81	1000Genomes_30x	NC_000005.10 - 143400774	Oct 17, 2022 (156)
82	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 142780339	Oct 12, 2018 (152)
83	Genome-wide autozygosity in Daghestan	NC_000005.8 - 142760532	Apr 26, 2020 (154)
84	Genetic variation in the Estonian population	NC_000005.9 - 142780339	Oct 12, 2018 (152)
85	ExAC	NC_000005.9 - 142780339	Oct 12, 2018 (152)
86	FINRISK	NC_000005.9 - 142780339	Apr 26, 2020 (154)
87	The Danish reference pan genome	NC_000005.9 - 142780339	Apr 26, 2020 (154)
88	gnomAD - Genomes	NC_000005.10 - 143400774	Apr 26, 2021 (155)
89	gnomAD - Exomes Submission ignored due to conflicting rows: Row 4454709 (NC_000005.9:142780338:C:C 251465/251466, NC_000005.9:142780338:C:A 1/251466) Row 4454710 (NC_000005.9:142780338:C:C 246863/251466, NC_000005.9:142780338:C:T 4603/251466)	-	Jul 13, 2019 (153)
90	gnomAD - Exomes Submission ignored due to conflicting rows: Row 4454709 (NC_000005.9:142780338:C:C 251465/251466, NC_000005.9:142780338:C:A 1/251466) Row 4454710 (NC_000005.9:142780338:C:C 246863/251466, NC_000005.9:142780338:C:T 4603/251466)	-	Jul 13, 2019 (153)
91	GO Exome Sequencing Project	NC_000005.9 - 142780339	Oct 12, 2018 (152)
92	Genome of the Netherlands Release 5	NC_000005.9 - 142780339	Apr 26, 2020 (154)
93	KOREAN population from KRGDB	NC_000005.9 - 142780339	Apr 26, 2020 (154)
94	Medical Genome Project healthy controls from Spanish population	NC_000005.9 - 142780339	Apr 26, 2020 (154)
95	Northern Sweden	NC_000005.9 - 142780339	Jul 13, 2019 (153)
96	The PAGE Study	NC_000005.10 - 143400774	Jul 13, 2019 (153)
97	PharmGKB Aggregated	NC_000005.10 - 143400774	Apr 26, 2020 (154)
98	SGDP_PRJ	NC_000005.9 - 142780339	Apr 26, 2020 (154)
99	Siberian	NC_000005.9 - 142780339	Apr 26, 2020 (154)
100	TopMed	NC_000005.10 - 143400774	Apr 26, 2021 (155)
101	UK 10K study - Twins	NC_000005.9 - 142780339	Oct 12, 2018 (152)
102	ALFA	NC_000005.10 - 143400774	Apr 26, 2021 (155)
103	ClinVar	RCV000017536.30	Oct 12, 2018 (152)
104	ClinVar	RCV000360936.4	Oct 17, 2022 (156)
105	ClinVar	RCV002055861.3	Oct 17, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2735324419	NC_000005.9:142780338:C:A	NC_000005.10:143400773:C:A	(self)
404552, ss109472596, ss484950594, ss491875137, ss1397429719, ss1591735738, ss3643529206	NC_000005.8:142760531:C:T	NC_000005.10:143400773:C:T	(self)
29229283, 16261491, 11577038, 8026979, 38128, 7545927, 583392, 7222327, 16983170, 216728, 6169336, 15156364, 4011211, 16261491, ss233177998, ss342192853, ss483735877, ss490912774, ss535936231, ss779515274, ss782311487, ss834985687, ss982205738, ss1317539291, ss1581380988, ss1584041667, ss1614185168, ss1657179201, ss1688018862, ss1711100968, ss1946158045, ss1958830249, ss1970224803, ss2023336077, ss2151494857, ss2634349964, ss2634349965, ss2711050776, ss2735324419, ss2747480195, ss2831709330, ss2985338255, ss2985969186, ss2997921571, ss3022537938, ss3625885381, ss3629359923, ss3632273417, ss3638585558, ss3644891042, ss3653040791, ss3654110425, ss3665838790, ss3732884471, ss3744260965, ss3824125298, ss3825682398, ss3863139384, ss3909805776, ss3986322961, ss5361483396, ss5639039004, ss5835752198, ss5848067903, ss5848637068, ss5967515285, ss5979757116	NC_000005.9:142780338:C:T	NC_000005.10:143400773:C:T	(self)
RCV000017536.30, RCV000360936.4, RCV002055861.3, 38445529, 206770727, 458424, 10425, 518942633, 1658586229, ss1505810956, ss2278834823, ss3715857525, ss3726277909, ss3771236955, ss3807328980, ss4681565076, ss5237644442, ss5266125659, ss5464062671, ss5550919594, ss5896649935	NC_000005.10:143400773:C:T	NC_000005.10:143400773:C:T	(self)
ss7811, ss14865728, ss75137989, ss86211774, ss102664198, ss105110606, ss119337796, ss173989801	NT_029289.11:3943265:C:T	NC_000005.10:143400773:C:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

47 citations for rs6189

PMID	Title	Author	Year	Journal
9150737	Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance.	Koper JW et al.	1997	Human genetics
12351458	A polymorphism in the glucocorticoid receptor gene, which decreases sensitivity to glucocorticoids in vivo, is associated with low insulin and cholesterol levels.	van Rossum EF et al.	2002	Diabetes
15276593	Association of the ER22/23EK polymorphism in the glucocorticoid receptor gene with survival and C-reactive protein levels in elderly men.	van Rossum EF et al.	2004	The American journal of medicine
15292341	The ER22/23EK polymorphism in the glucocorticoid receptor gene is associated with a beneficial body composition and muscle strength in young adults.	van Rossum EF et al.	2004	The Journal of clinical endocrinology and metabolism
16030164	Two polymorphisms in the glucocorticoid receptor gene directly affect glucocorticoid-regulated gene expression.	Russcher H et al.	2005	The Journal of clinical endocrinology and metabolism
17848410	The 23K variant of the R23K polymorphism in the glucocorticoid receptor gene protects against postnatal growth failure and insulin resistance after preterm birth.	Finken MJ et al.	2007	The Journal of clinical endocrinology and metabolism
19673019	IL-10 and TNF-alpha promoter haplotypes are associated with childhood Crohn's disease location.	Sanchez R et al.	2009	World journal of gastroenterology
20440229	Glucocorticoid receptor gene polymorphisms in Italian patients with eating disorders and obesity.	Cellini E et al.	2010	Psychiatric genetics
20547006	FKBP5 and resistant attachment predict cortisol reactivity in infants: gene-environment interaction.	Luijk MP et al.	2010	Psychoneuroendocrinology
20549395	Genetics of post-traumatic stress disorder: review and recommendations for genome-wide association studies.	Cornelis MC et al.	2010	Current psychiatry reports
20712049	Glucocorticoid receptor gene haplotype structure and steroid therapy outcome in IBD patients.	Mwinyi J et al.	2010	World journal of gastroenterology
21164266	Glucocorticoid resistance.	van Rossum EFC et al.	2011	Endocrine development
21225419	Gene-environment interactions: early life stress and risk for depressive and anxiety disorders.	Nugent NR et al.	2011	Psychopharmacology
21448414	Molecular mechanism of glucocorticoid resistance in inflammatory bowel disease.	De Iudicibus S et al.	2011	World journal of gastroenterology
22427805	Glucocorticoid receptor 1B and 1C mRNA transcript alterations in schizophrenia and bipolar disorder, and their possible regulation by GR gene variants.	Sinclair D et al.	2012	PloS one
22445700	The impact of drug metabolizing enzyme polymorphisms on outcomes after antenatal corticosteroid use.	Haas DM et al.	2012	American journal of obstetrics and gynecology
22507373	Glucocorticoid receptor gene polymorphisms are associated with reduced first-phase glucose-stimulated insulin secretion and disposition index in women, but not in men.	van Raalte DH et al.	2012	Diabetic medicine
22781842	Variation in the glucocorticoid receptor gene at rs41423247 moderates the effect of prenatal maternal psychological symptoms on child cortisol reactivity and behavior.	Velders FP et al.	2012	Neuropsychopharmacology
23055001	Genetic evidence for the association of the hypothalamic-pituitary-adrenal (HPA) axis with ADHD and methylphenidate treatment response.	Fortier MÈ et al.	2013	Neuromolecular medicine
24497894	A Conceptual Model of Psychoneurological Symptom Cluster Variation in Women with Breast Cancer: Bringing Nursing Research to Personalized Medicine.	Starkweather AR et al.	2013	Current pharmacogenomics and personalized medicine
25644744	Single nucleotide polymorphisms in non-coding region of the glucocorticoid receptor gene and prednisone response in childhood acute lymphoblastic leukemia.	Xue L et al.	2015	Leukemia & lymphoma
25724472	Polymorphisms in the glucocorticoid receptor gene and in the glucocorticoid-induced transcript 1 gene are associated with disease activity and response to glucocorticoid bridging therapy in rheumatoid arthritis.	Quax RA et al.	2015	Rheumatology international
25741362	Use of pharmacogenomics in pediatric renal transplant recipients.	Medeiros M et al.	2015	Frontiers in genetics
26518448	Case-control study of glucocorticoid receptor and corticotrophin-releasing hormone receptor gene variants and risk of perinatal depression.	Tan EC et al.	2015	BMC pregnancy and childbirth
26821164	Glucocorticoid Receptor (NR3C1) Variants Associate with the Muscle Strength and Size Response to Resistance Training.	Ash GI et al.	2016	PloS one
26823689	The cardiovascular and hypothalamus-pituitary-adrenal axis response to stress is controlled by glucocorticoid receptor sequence variants and promoter methylation.	Li-Tempel T et al.	2016	Clinical epigenetics
26873309	Glucocorticoid receptor polymorphisms modulate cardiometabolic risk factors in patients in long-term remission of Cushing's syndrome.	Roerink SH et al.	2016	Endocrine
27081784	A novel approach to understanding the role of polymorphic forms of the NR3C1 and TGF-β1 genes in the modulation of the expression of IL-5 and IL-15 mRNA in asthmatic inflammation.	Panek M et al.	2016	Molecular medicine reports
27507764	HPA axis dysregulation, NR3C1 polymorphisms and glucocorticoid receptor isoforms imbalance in metabolic syndrome.	Martins CS et al.	2017	Diabetes/metabolism research and reviews
27528460	HPA axis in major depression: cortisol, clinical symptomatology and genetic variation predict cognition.	Keller J et al.	2017	Molecular psychiatry
28364727	Hypothalamic-pituitary-adrenal axis genetic variation and early stress moderates amygdala function.	Di Iorio CR et al.	2017	Psychoneuroendocrinology
28641498	Glucocorticoid Receptor Genetic Variants and Response to Fluoxetine in Major Depressive Disorder.	Nouraei H et al.	2018	The Journal of neuropsychiatry and clinical neurosciences
29100174	The role of genetic variation in the glucocorticoid receptor (NR3C1) and mineralocorticoid receptor (NR3C2) in the association between cortisol response and cognition under acute stress.	Plieger T et al.	2018	Psychoneuroendocrinology
29526633	Association between allelic variants of the human glucocorticoid receptor gene and autoimmune diseases: A systematic review and meta-analysis.	Herrera C et al.	2018	Autoimmunity reviews
29761890	Glucocorticoid receptor gene variants and lower expression of NR3C1 are associated with cocaine use.	Schote AB et al.	2019	Addiction biology
29802709	Association Between NR3C1 Gene Polymorphisms and Toxicity Induced by Glucocorticoids Therapy in Saudi Children with Acute Lymphoblastic Leukemia.	El-Fayoumi R et al.	2018	Asian Pacific journal of cancer prevention
29879676	Genetic variation in the glucocorticoid receptor and psychopathology after dexamethasone administration in cardiac surgery patients.	Kok L et al.	2018	Journal of psychiatric research
30210047	Pharmacogenomic markers of glucocorticoid response in the initial phase of remission induction therapy in childhood acute lymphoblastic leukemia.	Gasic V et al.	2018	Radiology and oncology
30999951	NR3C1 gene polymorphisms are associated with high-altitude pulmonary edema in Han Chinese.	Yang Y et al.	2019	Journal of physiological anthropology
31022961	FKBP5 rs4713916: A Potential Genetic Predictor of Interindividual Different Response to Inhaled Corticosteroids in Patients with Chronic Obstructive Pulmonary Disease in a Real-Life Setting.	Russo P et al.	2019	International journal of molecular sciences
31724909	Role of NR3C1 and GAS5 genes polymorphisms in multiple sclerosis.	Moradi M et al.	2020	The International journal of neuroscience
32032633	Dual biomarkers long non-coding RNA GAS5 and its target, NR3C1, contribute to acute myeloid leukemia.	Ketab FNG et al.	2020	Experimental and molecular pathology
33019527	The Pathways between Cortisol-Related Regulation Genes and PTSD Psychotherapy.	Castro-Vale I et al.	2020	Healthcare (Basel, Switzerland)
33562675	The Glucocorticoid Receptor Gene (NR3C1) 9β SNP Is Associated with Posttraumatic Stress Disorder.	Castro-Vale I et al.	2021	Healthcare (Basel, Switzerland)
34298075	Glucocorticoid receptor Gene (NR3C1) Polymorphisms and Haplotypes in patients with congenital adrenal hyperplasia.	Villela TR et al.	2021	Molecular and cellular endocrinology
34466443	Genetic Variant of Glucocorticoid Receptor Gene at rs41423247 and Its Association with Major Depressive Disorder: A Case-Control Study.	Firouzabadi N et al.	2018	Galen medical journal
34721069	The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis.	Lonetti A et al.	2021	Frontiers in physiology

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs6189