dbSNP Short Genetic Variations
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.
rs6198
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr5:143278056 (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
- T>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.113601 (30069/264690, TOPMED)C=0.161521 (40144/248538, ALFA)C=0.114822 (16090/140130, GnomAD) (+ 19 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- NR3C1 : Non Coding Transcript Variant
- Publications
- 61 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 | 253570 | T=0.839042 | C=0.160958 |
| European | Sub | 225334 | T=0.829258 | C=0.170742 |
| African | Sub | 11208 | T=0.95218 | C=0.04782 |
| African Others | Sub | 430 | T=0.977 | C=0.023 |
| African American | Sub | 10778 | T=0.95120 | C=0.04880 |
| Asian | Sub | 3864 | T=0.9984 | C=0.0016 |
| East Asian | Sub | 3136 | T=0.9990 | C=0.0010 |
| Other Asian | Sub | 728 | T=0.996 | C=0.004 |
| Latin American 1 | Sub | 978 | T=0.851 | C=0.149 |
| Latin American 2 | Sub | 2570 | T=0.9004 | C=0.0996 |
| South Asian | Sub | 366 | T=0.833 | C=0.167 |
| Other | Sub | 9250 | T=0.8557 | C=0.1443 |
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").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | T=0.886399 | C=0.113601 |
| Allele Frequency Aggregator | Total | Global | 248538 | T=0.838479 | C=0.161521 |
| Allele Frequency Aggregator | European | Sub | 222244 | T=0.829156 | C=0.170844 |
| Allele Frequency Aggregator | African | Sub | 10066 | T=0.95251 | C=0.04749 |
| Allele Frequency Aggregator | Other | Sub | 8450 | T=0.8547 | C=0.1453 |
| Allele Frequency Aggregator | Asian | Sub | 3864 | T=0.9984 | C=0.0016 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 2570 | T=0.9004 | C=0.0996 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 978 | T=0.851 | C=0.149 |
| Allele Frequency Aggregator | South Asian | Sub | 366 | T=0.833 | C=0.167 |
| gnomAD - Genomes | Global | Study-wide | 140130 | T=0.885178 | C=0.114822 |
| gnomAD - Genomes | European | Sub | 75882 | T=0.84749 | C=0.15251 |
| gnomAD - Genomes | African | Sub | 42018 | T=0.95228 | C=0.04772 |
| gnomAD - Genomes | American | Sub | 13632 | T=0.88989 | C=0.11011 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | T=0.7688 | C=0.2312 |
| gnomAD - Genomes | East Asian | Sub | 3128 | T=0.9990 | C=0.0010 |
| gnomAD - Genomes | Other | Sub | 2148 | T=0.8883 | C=0.1117 |
| The PAGE Study | Global | Study-wide | 78702 | T=0.93280 | C=0.06720 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | T=0.94969 | C=0.05031 |
| The PAGE Study | Mexican | Sub | 10810 | T=0.90888 | C=0.09112 |
| The PAGE Study | Asian | Sub | 8318 | T=0.9984 | C=0.0016 |
| The PAGE Study | PuertoRican | Sub | 7918 | T=0.8985 | C=0.1015 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | T=0.9583 | C=0.0417 |
| The PAGE Study | Cuban | Sub | 4230 | T=0.8527 | C=0.1473 |
| The PAGE Study | Dominican | Sub | 3828 | T=0.9125 | C=0.0875 |
| The PAGE Study | CentralAmerican | Sub | 2450 | T=0.9045 | C=0.0955 |
| The PAGE Study | SouthAmerican | Sub | 1982 | T=0.9046 | C=0.0954 |
| The PAGE Study | NativeAmerican | Sub | 1260 | T=0.8960 | C=0.1040 |
| The PAGE Study | SouthAsian | Sub | 856 | T=0.825 | C=0.175 |
| 1000Genomes_30x | Global | Study-wide | 6404 | T=0.9149 | C=0.0851 |
| 1000Genomes_30x | African | Sub | 1786 | T=0.9787 | C=0.0213 |
| 1000Genomes_30x | Europe | Sub | 1266 | T=0.8223 | C=0.1777 |
| 1000Genomes_30x | South Asian | Sub | 1202 | T=0.8527 | C=0.1473 |
| 1000Genomes_30x | East Asian | Sub | 1170 | T=0.9991 | C=0.0009 |
| 1000Genomes_30x | American | Sub | 980 | T=0.894 | C=0.106 |
| 1000Genomes | Global | Study-wide | 5008 | T=0.9161 | C=0.0839 |
| 1000Genomes | African | Sub | 1322 | T=0.9766 | C=0.0234 |
| 1000Genomes | East Asian | Sub | 1008 | T=0.9990 | C=0.0010 |
| 1000Genomes | Europe | Sub | 1006 | T=0.8260 | C=0.1740 |
| 1000Genomes | South Asian | Sub | 978 | T=0.850 | C=0.150 |
| 1000Genomes | American | Sub | 694 | T=0.905 | C=0.095 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | T=0.8848 | C=0.1152 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.8337 | C=0.1663 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.8482 | C=0.1518 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | T=1.0000 | C=0.0000 |
| HapMap | Global | Study-wide | 1468 | T=0.8767 | C=0.1233 |
| HapMap | African | Sub | 692 | T=0.923 | C=0.077 |
| HapMap | American | Sub | 600 | T=0.858 | C=0.142 |
| HapMap | Europe | Sub | 176 | T=0.756 | C=0.244 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1132 | T=0.7827 | C=0.2173 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 626 | T=0.773 | C=0.227 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | T=0.708 | C=0.292 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | T=0.861 | C=0.139 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | T=0.824 | C=0.176 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 96 | T=0.83 | C=0.17 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | T=0.72 | C=0.28 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | T=0.794 | C=0.206 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 788 | T=0.992 | C=0.008 |
| CNV burdens in cranial meningiomas | CRM | Sub | 788 | T=0.992 | C=0.008 |
| Northern Sweden | ACPOP | Study-wide | 600 | T=0.872 | C=0.128 |
| PharmGKB Aggregated | Global | Study-wide | 564 | T=0.904 | C=0.096 |
| PharmGKB Aggregated | PA162071058 | Sub | 526 | T=0.911 | C=0.089 |
| PharmGKB Aggregated | PA150639813 | Sub | 38 | T=0.82 | C=0.18 |
| Qatari | Global | Study-wide | 216 | T=0.764 | C=0.236 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 216 | T=0.995 | C=0.005 |
| SGDP_PRJ | Global | Study-wide | 110 | T=0.391 | C=0.609 |
| The Danish reference pan genome | Danish | Study-wide | 40 | T=0.80 | C=0.20 |
| Siberian | Global | Study-wide | 8 | T=0.5 | C=0.5 |
Help
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.143278056T>C |
| GRCh37.p13 chr 5 | NC_000005.9:g.142657621T>C |
| NR3C1 RefSeqGene | NG_009062.1:g.162457A>G |
Gene: NR3C1, nuclear receptor subfamily 3 group C member 1
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| NR3C1 transcript variant 2 | NM_001018074.1:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 3 | NM_001018075.1:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 5 | NM_001018077.1:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 14 | NM_001364185.1:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 11 | NM_001364182.1:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 1 | NM_000176.3:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 9 | NM_001364180.2:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 12 | NM_001364183.2:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 10 | NM_001364181.2:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 13 | NM_001364184.2:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 4 | NM_001018076.2:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 6 | NM_001020825.2:c.*1308= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 7 | NM_001024094.2:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 1 | NM_001204258.2:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 1 | NM_001204259.2:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 1 | NM_001204260.2:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 1 | NM_001204261.2:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 1 | NM_001204262.2:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 1 | NM_001204263.2:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 1 | NM_001204264.2:c.*3833= | N/A | 3 Prime UTR Variant |
| NR3C1 transcript variant 8 | NM_001204265.2:c. | N/A | Genic Downstream Transcript Variant |
| NR3C1 transcript variant 15 | NR_157096.2:n.5090A>G | N/A | Non Coding Transcript Variant |
Help
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: C (allele ID:
301396
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000261556.3 | Glucocorticoid resistance | Benign |
Help
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 | T= | C |
|---|---|---|
| GRCh38.p14 chr 5 | NC_000005.10:g.143278056= | NC_000005.10:g.143278056T>C |
| GRCh37.p13 chr 5 | NC_000005.9:g.142657621= | NC_000005.9:g.142657621T>C |
| NR3C1 RefSeqGene | NG_009062.1:g.162457= | NG_009062.1:g.162457A>G |
| NR3C1 transcript variant 1 | NM_000176.3:c.*3833= | NM_000176.3:c.*3833A>G |
| NR3C1 transcript variant 1 | NM_000176.2:c.*3833= | NM_000176.2:c.*3833A>G |
| NR3C1 transcript variant 7 | NM_001024094.2:c.*3833= | NM_001024094.2:c.*3833A>G |
| NR3C1 transcript variant 7 | NM_001024094.1:c.*3833= | NM_001024094.1:c.*3833A>G |
| NR3C1 transcript variant 1 | NM_001204264.2:c.*3833= | NM_001204264.2:c.*3833A>G |
| NR3C1 transcript variant 1 | NM_001204264.1:c.*3833= | NM_001204264.1:c.*3833A>G |
| NR3C1 transcript variant 1 | NM_001204263.2:c.*3833= | NM_001204263.2:c.*3833A>G |
| NR3C1 transcript variant 1 | NM_001204263.1:c.*3833= | NM_001204263.1:c.*3833A>G |
| NR3C1 transcript variant 1 | NM_001204262.2:c.*3833= | NM_001204262.2:c.*3833A>G |
| NR3C1 transcript variant 1 | NM_001204262.1:c.*3833= | NM_001204262.1:c.*3833A>G |
| NR3C1 transcript variant 1 | NM_001204261.2:c.*3833= | NM_001204261.2:c.*3833A>G |
| NR3C1 transcript variant 1 | NM_001204261.1:c.*3833= | NM_001204261.1:c.*3833A>G |
| NR3C1 transcript variant 1 | NM_001204260.2:c.*3833= | NM_001204260.2:c.*3833A>G |
| NR3C1 transcript variant 1 | NM_001204260.1:c.*3833= | NM_001204260.1:c.*3833A>G |
| NR3C1 transcript variant 1 | NM_001204259.2:c.*3833= | NM_001204259.2:c.*3833A>G |
| NR3C1 transcript variant 1 | NM_001204259.1:c.*3833= | NM_001204259.1:c.*3833A>G |
| NR3C1 transcript variant 1 | NM_001204258.2:c.*3833= | NM_001204258.2:c.*3833A>G |
| NR3C1 transcript variant 1 | NM_001204258.1:c.*3833= | NM_001204258.1:c.*3833A>G |
| NR3C1 transcript variant 12 | NM_001364183.2:c.*3833= | NM_001364183.2:c.*3833A>G |
| NR3C1 transcript variant 12 | NM_001364183.1:c.*3833= | NM_001364183.1:c.*3833A>G |
| NR3C1 transcript variant 10 | NM_001364181.2:c.*3833= | NM_001364181.2:c.*3833A>G |
| NR3C1 transcript variant 10 | NM_001364181.1:c.*3833= | NM_001364181.1:c.*3833A>G |
| NR3C1 transcript variant 9 | NM_001364180.2:c.*3833= | NM_001364180.2:c.*3833A>G |
| NR3C1 transcript variant 9 | NM_001364180.1:c.*3833= | NM_001364180.1:c.*3833A>G |
| NR3C1 transcript variant 13 | NM_001364184.2:c.*3833= | NM_001364184.2:c.*3833A>G |
| NR3C1 transcript variant 13 | NM_001364184.1:c.*3833= | NM_001364184.1:c.*3833A>G |
| NR3C1 transcript variant 4 | NM_001018076.2:c.*3833= | NM_001018076.2:c.*3833A>G |
| NR3C1 transcript variant 4 | NM_001018076.1:c.*3833= | NM_001018076.1:c.*3833A>G |
| NR3C1 transcript variant 15 | NR_157096.2:n.5090= | NR_157096.2:n.5090A>G |
| NR3C1 transcript variant 15 | NR_157096.1:n.5090= | NR_157096.1:n.5090A>G |
| NR3C1 transcript variant 6 | NM_001020825.2:c.*1308= | NM_001020825.2:c.*1308A>G |
| NR3C1 transcript variant 6 | NM_001020825.1:c.*1308= | NM_001020825.1:c.*1308A>G |
| NR3C1 transcript variant 5 | NM_001018077.1:c.*3833= | NM_001018077.1:c.*3833A>G |
| NR3C1 transcript variant 14 | NM_001364185.1:c.*3833= | NM_001364185.1:c.*3833A>G |
| NR3C1 transcript variant 11 | NM_001364182.1:c.*3833= | NM_001364182.1:c.*3833A>G |
| NR3C1 transcript variant 2 | NM_001018074.1:c.*3833= | NM_001018074.1:c.*3833A>G |
| NR3C1 transcript variant 3 | NM_001018075.1:c.*3833= | NM_001018075.1:c.*3833A>G |
Help
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#.
94 SubSNP,
21 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | WIAF-CSNP | ss7820 | Sep 19, 2000 (52) |
| 2 | LEE | ss1523730 | Oct 04, 2000 (86) |
| 3 | LEE | ss4414791 | May 29, 2002 (106) |
| 4 | EGP_SNPS | ss14865860 | Dec 05, 2003 (119) |
| 5 | PERLEGEN | ss24622103 | Sep 20, 2004 (123) |
| 6 | ILLUMINA | ss75157034 | Dec 06, 2007 (129) |
| 7 | RSG_UW | ss86211918 | Mar 23, 2008 (129) |
| 8 | PHARMGKB_PHAT | ss105107581 | Feb 05, 2009 (130) |
| 9 | PHARMGKB_PPII | ss105110675 | Feb 05, 2009 (130) |
| 10 | 1000GENOMES | ss109472243 | Jan 24, 2009 (130) |
| 11 | KRIBB_YJKIM | ss119337801 | Dec 01, 2009 (131) |
| 12 | ILLUMINA | ss160768959 | Dec 01, 2009 (131) |
| 13 | ILLUMINA | ss173990047 | Jul 04, 2010 (132) |
| 14 | 1000GENOMES | ss222006678 | Jul 14, 2010 (132) |
| 15 | 1000GENOMES | ss233177809 | Jul 14, 2010 (132) |
| 16 | ILLUMINA | ss481226662 | May 04, 2012 (137) |
| 17 | ILLUMINA | ss481250165 | May 04, 2012 (137) |
| 18 | ILLUMINA | ss482236639 | Sep 08, 2015 (146) |
| 19 | ILLUMINA | ss485408634 | May 04, 2012 (137) |
| 20 | ILLUMINA | ss537343361 | Sep 08, 2015 (146) |
| 21 | TISHKOFF | ss558760603 | Apr 25, 2013 (138) |
| 22 | SSMP | ss652662105 | Apr 25, 2013 (138) |
| 23 | ILLUMINA | ss778938189 | Sep 08, 2015 (146) |
| 24 | ILLUMINA | ss783149787 | Sep 08, 2015 (146) |
| 25 | ILLUMINA | ss784105786 | Sep 08, 2015 (146) |
| 26 | ILLUMINA | ss832408972 | Sep 08, 2015 (146) |
| 27 | ILLUMINA | ss834399867 | Sep 08, 2015 (146) |
| 28 | EVA-GONL | ss982205081 | Aug 21, 2014 (142) |
| 29 | JMKIDD_LAB | ss1073099224 | Aug 21, 2014 (142) |
| 30 | 1000GENOMES | ss1317536213 | Aug 21, 2014 (142) |
| 31 | HAMMER_LAB | ss1397429707 | Sep 08, 2015 (146) |
| 32 | EVA_GENOME_DK | ss1581380803 | Apr 01, 2015 (144) |
| 33 | EVA_DECODE | ss1591735073 | Apr 01, 2015 (144) |
| 34 | EVA_UK10K_ALSPAC | ss1614183538 | Apr 01, 2015 (144) |
| 35 | EVA_UK10K_TWINSUK | ss1657177571 | Apr 01, 2015 (144) |
| 36 | EVA_SVP | ss1712806107 | Apr 01, 2015 (144) |
| 37 | ILLUMINA | ss1752553362 | Sep 08, 2015 (146) |
| 38 | WEILL_CORNELL_DGM | ss1925459386 | Feb 12, 2016 (147) |
| 39 | ILLUMINA | ss1946158008 | Feb 12, 2016 (147) |
| 40 | ILLUMINA | ss1958830184 | Feb 12, 2016 (147) |
| 41 | JJLAB | ss2023335820 | Sep 14, 2016 (149) |
| 42 | USC_VALOUEV | ss2151494586 | Dec 20, 2016 (150) |
| 43 | HUMAN_LONGEVITY | ss2278828243 | Dec 20, 2016 (150) |
| 44 | ILLUMINA | ss2634349775 | Nov 08, 2017 (151) |
| 45 | ILLUMINA | ss2634349776 | Nov 08, 2017 (151) |
| 46 | ILLUMINA | ss2711050729 | Nov 08, 2017 (151) |
| 47 | GNOMAD | ss2831700354 | Nov 08, 2017 (151) |
| 48 | SWEGEN | ss2997920587 | Nov 08, 2017 (151) |
| 49 | ILLUMINA | ss3022537865 | Nov 08, 2017 (151) |
| 50 | BIOINF_KMB_FNS_UNIBA | ss3025449932 | Nov 08, 2017 (151) |
| 51 | CSHL | ss3346661780 | Nov 08, 2017 (151) |
| 52 | ILLUMINA | ss3625885350 | Oct 12, 2018 (152) |
| 53 | ILLUMINA | ss3629359702 | Oct 12, 2018 (152) |
| 54 | ILLUMINA | ss3632273265 | Oct 12, 2018 (152) |
| 55 | ILLUMINA | ss3633392450 | Oct 12, 2018 (152) |
| 56 | ILLUMINA | ss3634113770 | Oct 12, 2018 (152) |
| 57 | ILLUMINA | ss3635026305 | Oct 12, 2018 (152) |
| 58 | ILLUMINA | ss3635795447 | Oct 12, 2018 (152) |
| 59 | ILLUMINA | ss3636739266 | Oct 12, 2018 (152) |
| 60 | ILLUMINA | ss3637548099 | Oct 12, 2018 (152) |
| 61 | ILLUMINA | ss3638585409 | Oct 12, 2018 (152) |
| 62 | ILLUMINA | ss3640733599 | Oct 12, 2018 (152) |
| 63 | ILLUMINA | ss3643529056 | Oct 12, 2018 (152) |
| 64 | ILLUMINA | ss3644891006 | Oct 12, 2018 (152) |
| 65 | OMUKHERJEE_ADBS | ss3646325898 | Oct 12, 2018 (152) |
| 66 | ILLUMINA | ss3653040718 | Oct 12, 2018 (152) |
| 67 | EGCUT_WGS | ss3665837615 | Jul 13, 2019 (153) |
| 68 | EVA_DECODE | ss3715856223 | Jul 13, 2019 (153) |
| 69 | ILLUMINA | ss3726277838 | Jul 13, 2019 (153) |
| 70 | ACPOP | ss3732884005 | Jul 13, 2019 (153) |
| 71 | ILLUMINA | ss3744260935 | Jul 13, 2019 (153) |
| 72 | ILLUMINA | ss3745326489 | Jul 13, 2019 (153) |
| 73 | EVA | ss3764158995 | Jul 13, 2019 (153) |
| 74 | PAGE_CC | ss3771236903 | Jul 13, 2019 (153) |
| 75 | ILLUMINA | ss3772820456 | Jul 13, 2019 (153) |
| 76 | KHV_HUMAN_GENOMES | ss3807328145 | Jul 13, 2019 (153) |
| 77 | EVA | ss3825682387 | Apr 26, 2020 (154) |
| 78 | EVA | ss3829541922 | Apr 26, 2020 (154) |
| 79 | SGDP_PRJ | ss3863138106 | Apr 26, 2020 (154) |
| 80 | KRGDB | ss3909804095 | Apr 26, 2020 (154) |
| 81 | EVA | ss3984555529 | Apr 26, 2021 (155) |
| 82 | EVA | ss4017235535 | Apr 26, 2021 (155) |
| 83 | TOPMED | ss4681536183 | Apr 26, 2021 (155) |
| 84 | 1000G_HIGH_COVERAGE | ss5266123202 | Oct 17, 2022 (156) |
| 85 | EVA | ss5315091670 | Oct 17, 2022 (156) |
| 86 | HUGCELL_USP | ss5464060547 | Oct 17, 2022 (156) |
| 87 | 1000G_HIGH_COVERAGE | ss5550915572 | Oct 17, 2022 (156) |
| 88 | SANFORD_IMAGENETICS | ss5639037625 | Oct 17, 2022 (156) |
| 89 | EVA | ss5799664342 | Oct 17, 2022 (156) |
| 90 | YY_MCH | ss5806831906 | Oct 17, 2022 (156) |
| 91 | EVA | ss5835751344 | Oct 17, 2022 (156) |
| 92 | EVA | ss5848067853 | Oct 17, 2022 (156) |
| 93 | EVA | ss5896646765 | Oct 17, 2022 (156) |
| 94 | EVA | ss5967513708 | Oct 17, 2022 (156) |
| 95 | 1000Genomes | NC_000005.9 - 142657621 | Oct 12, 2018 (152) |
| 96 | 1000Genomes_30x | NC_000005.10 - 143278056 | Oct 17, 2022 (156) |
| 97 | The Avon Longitudinal Study of Parents and Children | NC_000005.9 - 142657621 | Oct 12, 2018 (152) |
| 98 | Genome-wide autozygosity in Daghestan | NC_000005.8 - 142637814 | Apr 26, 2020 (154) |
| 99 | Genetic variation in the Estonian population | NC_000005.9 - 142657621 | Oct 12, 2018 (152) |
| 100 | The Danish reference pan genome | NC_000005.9 - 142657621 | Apr 26, 2020 (154) |
| 101 | gnomAD - Genomes | NC_000005.10 - 143278056 | Apr 26, 2021 (155) |
| 102 | Genome of the Netherlands Release 5 | NC_000005.9 - 142657621 | Apr 26, 2020 (154) |
| 103 | HapMap | NC_000005.10 - 143278056 | Apr 26, 2020 (154) |
| 104 | KOREAN population from KRGDB | NC_000005.9 - 142657621 | Apr 26, 2020 (154) |
| 105 | Northern Sweden | NC_000005.9 - 142657621 | Jul 13, 2019 (153) |
| 106 | The PAGE Study | NC_000005.10 - 143278056 | Jul 13, 2019 (153) |
| 107 | CNV burdens in cranial meningiomas | NC_000005.9 - 142657621 | Apr 26, 2021 (155) |
| 108 | PharmGKB Aggregated | NC_000005.10 - 143278056 | Apr 26, 2020 (154) |
| 109 | Qatari | NC_000005.9 - 142657621 | Apr 26, 2020 (154) |
| 110 | SGDP_PRJ | NC_000005.9 - 142657621 | Apr 26, 2020 (154) |
| 111 | Siberian | NC_000005.9 - 142657621 | Apr 26, 2020 (154) |
| 112 | TopMed | NC_000005.10 - 143278056 | Apr 26, 2021 (155) |
| 113 | UK 10K study - Twins | NC_000005.9 - 142657621 | Oct 12, 2018 (152) |
| 114 | A Vietnamese Genetic Variation Database | NC_000005.9 - 142657621 | Jul 13, 2019 (153) |
| 115 | ALFA | NC_000005.10 - 143278056 | Apr 26, 2021 (155) |
| 116 | ClinVar | RCV000261556.3 | Oct 17, 2022 (156) |
Help
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).
| Associated ID | History Updated (Build) |
|---|---|
| rs3189946 | Jul 03, 2002 (106) |
| rs17209244 | Oct 08, 2004 (123) |
| rs386601916 | Aug 21, 2014 (142) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 404540, ss109472243, ss481226662, ss1397429707, ss1591735073, ss1712806107, ss3643529056 | NC_000005.8:142637813:T:C | NC_000005.10:143278055:T:C | (self) |
| 29226104, 16259683, 11575863, 7545742, 7221673, 16981489, 6168870, 104901, 7501316, 15155086, 4010940, 16259683, 3602878, ss222006678, ss233177809, ss481250165, ss482236639, ss485408634, ss537343361, ss558760603, ss652662105, ss778938189, ss783149787, ss784105786, ss832408972, ss834399867, ss982205081, ss1073099224, ss1317536213, ss1581380803, ss1614183538, ss1657177571, ss1752553362, ss1925459386, ss1946158008, ss1958830184, ss2023335820, ss2151494586, ss2634349775, ss2634349776, ss2711050729, ss2831700354, ss2997920587, ss3022537865, ss3346661780, ss3625885350, ss3629359702, ss3632273265, ss3633392450, ss3634113770, ss3635026305, ss3635795447, ss3636739266, ss3637548099, ss3638585409, ss3640733599, ss3644891006, ss3646325898, ss3653040718, ss3665837615, ss3732884005, ss3744260935, ss3745326489, ss3764158995, ss3772820456, ss3825682387, ss3829541922, ss3863138106, ss3909804095, ss3984555529, ss4017235535, ss5315091670, ss5639037625, ss5799664342, ss5835751344, ss5848067853, ss5967513708 | NC_000005.9:142657620:T:C | NC_000005.10:143278055:T:C | (self) |
| RCV000261556.3, 38441507, 206747536, 2983731, 458372, 10348, 518913740, 12257747408, ss2278828243, ss3025449932, ss3715856223, ss3726277838, ss3771236903, ss3807328145, ss4681536183, ss5266123202, ss5464060547, ss5550915572, ss5806831906, ss5896646765 | NC_000005.10:143278055:T:C | NC_000005.10:143278055:T:C | (self) |
| ss7820, ss1523730, ss4414791, ss14865860, ss24622103, ss75157034, ss86211918, ss105107581, ss105110675, ss119337801, ss160768959, ss173990047 | NT_029289.11:3820547:T:C | NC_000005.10:143278055:T:C | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
61
citations for rs6198
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 11708406 | A human glucocorticoid receptor gene variant that increases the stability of the glucocorticoid receptor beta-isoform mRNA is associated with rheumatoid arthritis. | Derijk RH et al. | 2001 | The Journal of rheumatology |
| 17532759 | Glucocorticoid receptor gene polymorphisms and susceptibility to rheumatoid arthritis. | Donn R et al. | 2007 | Clinical endocrinology |
| 18663733 | Characterization of a glucocorticoid receptor gene (GR, NR3C1) promoter polymorphism reveals functionality and extends a haplotype with putative clinical relevance. | Kumsta R et al. | 2009 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 18830906 | Glucocorticoid receptor variants may predispose to rheumatoid arthritis susceptibility. | Chatzikyriakidou A et al. | 2009 | Scandinavian journal of rheumatology |
| 18854398 | Glucocorticoid receptor gene variant in the 3' untranslated region is associated with multiple measures of blood pressure. | Chung CC et al. | 2009 | The Journal of clinical endocrinology and metabolism |
| 20199670 | Glucocorticoid receptor gene polymorphisms do not affect growth in fetal and early postnatal life. The Generation R Study. | Geelhoed MJ et al. | 2010 | BMC medical genetics |
| 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 |
| 20680430 | No associations between single nucleotide polymorphisms in corticoid receptor genes and heart rate and cortisol responses to a standardized social stress test in adolescents: the TRAILS study. | Bouma EM et al. | 2011 | Behavior genetics |
| 21146942 | Glucocorticoid receptor-9beta polymorphism is associated with systolic blood pressure and heart growth during early childhood. The Generation R Study. | Geelhoed JJ et al. | 2011 | Early human development |
| 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 |
| 21232135 | Glucocorticoid receptor gene polymorphism and juvenile idiopathic arthritis. | Kostik MM et al. | 2011 | Pediatric rheumatology online journal |
| 21448414 | Molecular mechanism of glucocorticoid resistance in inflammatory bowel disease. | De Iudicibus S et al. | 2011 | World journal of gastroenterology |
| 21764460 | Glucocorticoid receptor polymorphism is associated with major depression and predominance of depression in the course of bipolar disorder. | Szczepankiewicz A et al. | 2011 | Journal of affective disorders |
| 21803757 | Genetic polymorphisms of the glucocorticoid receptor may affect the phenotype of women with anovulatory polycystic ovary syndrome. | Valkenburg O et al. | 2011 | Human reproduction (Oxford, England) |
| 21876507 | Glucocorticoid receptor polymorphism is associated with lithium response in bipolar patients. | Szczepankiewicz A et al. | 2011 | Neuro endocrinology letters |
| 22083731 | Genetic modulation of neural response during working memory in healthy individuals: interaction of glucocorticoid receptor and dopaminergic genes. | El-Hage W et al. | 2013 | Molecular psychiatry |
| 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 |
| 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 |
| 22812453 | Glucocorticoid receptor mRNA and protein isoform alterations in the orbitofrontal cortex in schizophrenia and bipolar disorder. | Sinclair D et al. | 2012 | BMC psychiatry |
| 22879541 | A3669G polymorphism of glucocorticoid receptor is a susceptibility allele for primary myelofibrosis and contributes to phenotypic diversity and blast transformation. | Poletto V et al. | 2012 | Blood |
| 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 |
| 23213652 | Abstracts of the American College of Neuropsychopharmacology (ACNP) 51st Annual Meeting. December 2-6, 2012. Hollywood, Florida, USA. | 2012 | Neuropsychopharmacology | |
| 23543128 | MR and GR functional SNPs may modulate tobacco smoking susceptibility. | Rovaris DL et al. | 2013 | Journal of neural transmission (Vienna, Austria |
| 24166410 | HPA axis genetic variation, cortisol and psychosis in major depression. | Schatzberg AF et al. | 2014 | Molecular psychiatry |
| 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 |
| 24856550 | FKBP5 polymorphism is associated with major depression but not with bipolar disorder. | Szczepankiewicz A et al. | 2014 | Journal of affective disorders |
| 25113244 | The relationship between glucocorticoid receptor polymorphisms, stressful life events, social support, and post-traumatic stress disorder. | Lian Y et al. | 2014 | BMC psychiatry |
| 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 |
| 25755906 | The role of glucocorticoid receptor (GR) polymorphisms in human erythropoiesis. | Varricchio L et al. | 2014 | American journal of blood research |
| 25843653 | GLCCI1 and Glucocorticoid Receptor Genetic Diversity and Response to Glucocorticoid-Based Treatment of Graft-versus-Host Disease. | O'Meara A et al. | 2015 | Biology of blood and marrow transplantation |
| 26228405 | Corticosteroid receptor genes and childhood neglect influence susceptibility to crack/cocaine addiction and response to detoxification treatment. | Rovaris DL et al. | 2015 | Journal of psychiatric research |
| 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 |
| 27427275 | Association of germline genetic variants in RFC, IL15 and VDR genes with minimal residual disease in pediatric B-cell precursor ALL. | Dawidowska M et al. | 2016 | Scientific reports |
| 27528460 | HPA axis in major depression: cortisol, clinical symptomatology and genetic variation predict cognition. | Keller J et al. | 2017 | Molecular psychiatry |
| 27870355 | Impact of genomic risk factors on survival after haematopoietic stem cell transplantation for patients with acute leukaemia. | Pearce KF et al. | 2016 | International journal of immunogenetics |
| 28178077 | Glucocorticoid Receptor Polymorphisms and Outcomes in Pediatric Septic Shock. | Cvijanovich NZ et al. | 2017 | Pediatric critical care medicine |
| 28237884 | Effects of crack cocaine addiction and stress-related genes on peripheral BDNF levels. | Rovaris DL et al. | 2017 | Journal of psychiatric research |
| 28262345 | Influence of NR3C1 and VDR polymorphisms on stable warfarin dose in patients with mechanical cardiac valves. | Lee KE et al. | 2017 | International journal of cardiology |
| 28334414 | Association of a Haplotype in the NR3C2 Gene, Encoding the Mineralocorticoid Receptor, With Chronic Central Serous Chorioretinopathy. | van Dijk EHC et al. | 2017 | JAMA ophthalmology |
| 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 |
| 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 |
| 30043490 | The influence of glucocorticoid receptor single nucleotide polymorphisms on outcome after haematopoietic stem cell transplantation. | Norden J et al. | 2018 | International journal of immunogenetics |
| 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 |
| 30639698 | Circulating Interleukin-6 concentration covaries inversely with self-reported sleep duration as a function of polymorphic variation in the glucocorticoid receptor. | Walsh CP et al. | 2019 | Brain, behavior, and immunity |
| 30999951 | NR3C1 gene polymorphisms are associated with high-altitude pulmonary edema in Han Chinese. | Yang Y et al. | 2019 | Journal of physiological anthropology |
| 31820730 | Glucocorticoid receptor polymorphisms in rheumatoid arthritis: results from a single centre. | Bazsó A et al. | 2020 | Clinical and experimental rheumatology |
| 33019527 | The Pathways between Cortisol-Related Regulation Genes and PTSD Psychotherapy. | Castro-Vale I et al. | 2020 | Healthcare (Basel, Switzerland) |
| 33133738 | Glucocorticoid Receptor Polymorphisms in Children Undergoing Congenital Heart Surgery with Cardiopulmonary Bypass. | Flores S et al. | 2020 | Journal of pediatric intensive care |
| 33562675 | The Glucocorticoid Receptor Gene (NR3C1) 9β SNP Is Associated with Posttraumatic Stress Disorder. | Castro-Vale I et al. | 2021 | Healthcare (Basel, Switzerland) |
| 33807560 | A Systematic Review of Genetic Polymorphisms Associated with Binge Eating Disorder. | Manfredi L et al. | 2021 | Nutrients |
| 34298075 | Glucocorticoid receptor Gene (NR3C1) Polymorphisms and Haplotypes in patients with congenital adrenal hyperplasia. | Villela TR et al. | 2021 | Molecular and cellular endocrinology |
| 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 |
| 34831409 | NR3C1 Glucocorticoid Receptor Gene Polymorphisms Are Associated with Membranous and IgA Nephropathies. | Pac M et al. | 2021 | Cells |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
Top▲
Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.