Name: rs12441727
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.

rs12441727

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:28026629 (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: G>A / G>C
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.108274 (28659/264690, TOPMED)
A=0.097846 (13716/140180, GnomAD)
A=0.24294 (6865/28258, 14KJPN) (+ 18 more)
A=0.09772 (1846/18890, ALFA)
A=0.24564 (4117/16760, 8.3KJPN)
A=0.1371 (878/6404, 1000G_30x)
A=0.1390 (696/5008, 1000G)
A=0.1040 (466/4480, Estonian)
A=0.0960 (370/3854, ALSPAC)
A=0.0960 (356/3708, TWINSUK)
A=0.2505 (734/2930, KOREAN)
A=0.2549 (467/1832, Korea1K)
A=0.097 (97/998, GoNL)
A=0.113 (68/600, NorthernSweden)
A=0.055 (18/328, HapMap)
G=0.363 (85/234, SGDP_PRJ)
A=0.250 (54/216, Qatari)
A=0.176 (38/216, Vietnamese)
A=0.20 (14/70, Ancient Sardinia)
A=0.10 (4/40, GENOME_DK)
G=0.44 (8/18, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: OCA2 : Intron Variant
Publications: 0 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	18890	G=0.90228	A=0.09772
European	Sub	14286	G=0.89619	A=0.10381
African	Sub	2946	G=0.9817	A=0.0183
African Others	Sub	114	G=1.000	A=0.000
African American	Sub	2832	G=0.9809	A=0.0191
Asian	Sub	112	G=0.714	A=0.286
East Asian	Sub	86	G=0.67	A=0.33
Other Asian	Sub	26	G=0.85	A=0.15
Latin American 1	Sub	146	G=0.829	A=0.171
Latin American 2	Sub	610	G=0.780	A=0.220
South Asian	Sub	98	G=0.68	A=0.32
Other	Sub	692	G=0.874	A=0.126

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	G=0.891726	A=0.108274
gnomAD - Genomes	Global	Study-wide	140180	G=0.902154	A=0.097846
gnomAD - Genomes	European	Sub	75908	G=0.88921	A=0.11079
gnomAD - Genomes	African	Sub	42032	G=0.97321	A=0.02679
gnomAD - Genomes	American	Sub	13650	G=0.79319	A=0.20681
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.8818	A=0.1182
gnomAD - Genomes	East Asian	Sub	3120	G=0.7878	A=0.2122
gnomAD - Genomes	Other	Sub	2146	G=0.8593	A=0.1407
14KJPN	JAPANESE	Study-wide	28258	G=0.75706	A=0.24294
Allele Frequency Aggregator	Total	Global	18890	G=0.90228	A=0.09772
Allele Frequency Aggregator	European	Sub	14286	G=0.89619	A=0.10381
Allele Frequency Aggregator	African	Sub	2946	G=0.9817	A=0.0183
Allele Frequency Aggregator	Other	Sub	692	G=0.874	A=0.126
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.780	A=0.220
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.829	A=0.171
Allele Frequency Aggregator	Asian	Sub	112	G=0.714	A=0.286
Allele Frequency Aggregator	South Asian	Sub	98	G=0.68	A=0.32
8.3KJPN	JAPANESE	Study-wide	16760	G=0.75436	A=0.24564
1000Genomes_30x	Global	Study-wide	6404	G=0.8629	A=0.1371
1000Genomes_30x	African	Sub	1786	G=0.9933	A=0.0067
1000Genomes_30x	Europe	Sub	1266	G=0.8744	A=0.1256
1000Genomes_30x	South Asian	Sub	1202	G=0.8037	A=0.1963
1000Genomes_30x	East Asian	Sub	1170	G=0.7812	A=0.2188
1000Genomes_30x	American	Sub	980	G=0.781	A=0.219
1000Genomes	Global	Study-wide	5008	G=0.8610	A=0.1390
1000Genomes	African	Sub	1322	G=0.9917	A=0.0083
1000Genomes	East Asian	Sub	1008	G=0.7778	A=0.2222
1000Genomes	Europe	Sub	1006	G=0.8738	A=0.1262
1000Genomes	South Asian	Sub	978	G=0.808	A=0.192
1000Genomes	American	Sub	694	G=0.790	A=0.210
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8960	A=0.1040
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9040	A=0.0960
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9040	A=0.0960
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.7495	A=0.2505
Korean Genome Project	KOREAN	Study-wide	1832	G=0.7451	A=0.2549
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.903	A=0.097
Northern Sweden	ACPOP	Study-wide	600	G=0.887	A=0.113
HapMap	Global	Study-wide	328	G=0.945	A=0.055
HapMap	African	Sub	120	G=1.000	A=0.000
HapMap	American	Sub	118	G=0.941	A=0.059
HapMap	Asian	Sub	90	G=0.88	A=0.12
SGDP_PRJ	Global	Study-wide	234	G=0.363	A=0.637
Qatari	Global	Study-wide	216	G=0.750	A=0.250
A Vietnamese Genetic Variation Database	Global	Study-wide	216	G=0.824	A=0.176
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	70	G=0.80	A=0.20
The Danish reference pan genome	Danish	Study-wide	40	G=0.90	A=0.10
Siberian	Global	Study-wide	18	G=0.44	A=0.56

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 15	NC_000015.10:g.28026629G>A
GRCh38.p14 chr 15	NC_000015.10:g.28026629G>C
GRCh37.p13 chr 15	NC_000015.9:g.28271775G>A
GRCh37.p13 chr 15	NC_000015.9:g.28271775G>C
OCA2 RefSeqGene	NG_009846.1:g.77684C>T
OCA2 RefSeqGene	NG_009846.1:g.77684C>G
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.160928G>A
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.160928G>C
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.160928G>A
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.160928G>C

Gene: OCA2, OCA2 melanosomal transmembrane protein (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
OCA2 transcript variant 1	NM_000275.3:c.515+1242C>T	N/A	Intron Variant
OCA2 transcript variant 2	NM_001300984.2:c.515+1242… NM_001300984.2:c.515+1242C>T	N/A	Intron Variant
OCA2 transcript variant X2	XM_011521640.3:c.515+1242… XM_011521640.3:c.515+1242C>T	N/A	Intron Variant
OCA2 transcript variant X1	XM_017022255.2:c.539+1242… XM_017022255.2:c.539+1242C>T	N/A	Intron Variant
OCA2 transcript variant X3	XM_017022256.2:c.539+1242… XM_017022256.2:c.539+1242C>T	N/A	Intron Variant
OCA2 transcript variant X4	XM_017022257.2:c.539+1242… XM_017022257.2:c.539+1242C>T	N/A	Intron Variant
OCA2 transcript variant X5	XM_017022258.2:c.539+1242… XM_017022258.2:c.539+1242C>T	N/A	Intron Variant
OCA2 transcript variant X8	XM_017022259.2:c.539+1242… XM_017022259.2:c.539+1242C>T	N/A	Intron Variant
OCA2 transcript variant X9	XM_017022260.2:c.539+1242… XM_017022260.2:c.539+1242C>T	N/A	Intron Variant
OCA2 transcript variant X14	XM_017022261.2:c.344+1242… XM_017022261.2:c.344+1242C>T	N/A	Intron Variant
OCA2 transcript variant X15	XM_017022262.2:c.539+1242… XM_017022262.2:c.539+1242C>T	N/A	Intron Variant
OCA2 transcript variant X17	XM_017022263.2:c.539+1242… XM_017022263.2:c.539+1242C>T	N/A	Intron Variant
OCA2 transcript variant X20	XM_017022264.2:c.539+1242… XM_017022264.2:c.539+1242C>T	N/A	Intron Variant
OCA2 transcript variant X27	XM_017022265.2:c.539+1242… XM_017022265.2:c.539+1242C>T	N/A	Intron Variant
OCA2 transcript variant X6	XM_047432605.1:c.515+1242… XM_047432605.1:c.515+1242C>T	N/A	Intron Variant
OCA2 transcript variant X7	XM_047432606.1:c.515+1242… XM_047432606.1:c.515+1242C>T	N/A	Intron Variant
OCA2 transcript variant X10	XM_047432607.1:c.539+1242… XM_047432607.1:c.539+1242C>T	N/A	Intron Variant
OCA2 transcript variant X11	XM_047432608.1:c.515+1242… XM_047432608.1:c.515+1242C>T	N/A	Intron Variant
OCA2 transcript variant X12	XM_047432609.1:c.515+1242… XM_047432609.1:c.515+1242C>T	N/A	Intron Variant
OCA2 transcript variant X13	XM_047432610.1:c.539+1242… XM_047432610.1:c.539+1242C>T	N/A	Intron Variant
OCA2 transcript variant X16	XM_047432611.1:c.515+1242… XM_047432611.1:c.515+1242C>T	N/A	Intron Variant
OCA2 transcript variant X18	XM_047432612.1:c.515+1242… XM_047432612.1:c.515+1242C>T	N/A	Intron Variant
OCA2 transcript variant X19	XM_047432613.1:c.515+1242… XM_047432613.1:c.515+1242C>T	N/A	Intron Variant
OCA2 transcript variant X21	XM_047432614.1:c.515+1242… XM_047432614.1:c.515+1242C>T	N/A	Intron Variant
OCA2 transcript variant X22	XM_047432615.1:c.539+1242… XM_047432615.1:c.539+1242C>T	N/A	Intron Variant
OCA2 transcript variant X23	XM_047432616.1:c.539+1242… XM_047432616.1:c.539+1242C>T	N/A	Intron Variant
OCA2 transcript variant X24	XM_047432617.1:c.515+1242… XM_047432617.1:c.515+1242C>T	N/A	Intron Variant
OCA2 transcript variant X25	XM_047432618.1:c.515+1242… XM_047432618.1:c.515+1242C>T	N/A	Intron Variant
OCA2 transcript variant X26	XM_047432619.1:c.515+1242… XM_047432619.1:c.515+1242C>T	N/A	Intron Variant
OCA2 transcript variant X28	XR_001751294.2: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.

Not Reported in ClinVar

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	G=	A	C
GRCh38.p14 chr 15	NC_000015.10:g.28026629=	NC_000015.10:g.28026629G>A	NC_000015.10:g.28026629G>C
GRCh37.p13 chr 15	NC_000015.9:g.28271775=	NC_000015.9:g.28271775G>A	NC_000015.9:g.28271775G>C
OCA2 RefSeqGene	NG_009846.1:g.77684=	NG_009846.1:g.77684C>T	NG_009846.1:g.77684C>G
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.160928=	NW_011332701.1:g.160928G>A	NW_011332701.1:g.160928G>C
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.160928=	NT_187660.1:g.160928G>A	NT_187660.1:g.160928G>C
OCA2 transcript variant 1	NM_000275.2:c.515+1242=	NM_000275.2:c.515+1242C>T	NM_000275.2:c.515+1242C>G
OCA2 transcript variant 1	NM_000275.3:c.515+1242=	NM_000275.3:c.515+1242C>T	NM_000275.3:c.515+1242C>G
OCA2 transcript variant 2	NM_001300984.2:c.515+1242=	NM_001300984.2:c.515+1242C>T	NM_001300984.2:c.515+1242C>G
OCA2 transcript variant X1	XM_005268259.1:c.515+1242=	XM_005268259.1:c.515+1242C>T	XM_005268259.1:c.515+1242C>G
OCA2 transcript variant X2	XM_011521640.3:c.515+1242=	XM_011521640.3:c.515+1242C>T	XM_011521640.3:c.515+1242C>G
OCA2 transcript variant X1	XM_017022255.2:c.539+1242=	XM_017022255.2:c.539+1242C>T	XM_017022255.2:c.539+1242C>G
OCA2 transcript variant X3	XM_017022256.2:c.539+1242=	XM_017022256.2:c.539+1242C>T	XM_017022256.2:c.539+1242C>G
OCA2 transcript variant X4	XM_017022257.2:c.539+1242=	XM_017022257.2:c.539+1242C>T	XM_017022257.2:c.539+1242C>G
OCA2 transcript variant X5	XM_017022258.2:c.539+1242=	XM_017022258.2:c.539+1242C>T	XM_017022258.2:c.539+1242C>G
OCA2 transcript variant X8	XM_017022259.2:c.539+1242=	XM_017022259.2:c.539+1242C>T	XM_017022259.2:c.539+1242C>G
OCA2 transcript variant X9	XM_017022260.2:c.539+1242=	XM_017022260.2:c.539+1242C>T	XM_017022260.2:c.539+1242C>G
OCA2 transcript variant X14	XM_017022261.2:c.344+1242=	XM_017022261.2:c.344+1242C>T	XM_017022261.2:c.344+1242C>G
OCA2 transcript variant X15	XM_017022262.2:c.539+1242=	XM_017022262.2:c.539+1242C>T	XM_017022262.2:c.539+1242C>G
OCA2 transcript variant X17	XM_017022263.2:c.539+1242=	XM_017022263.2:c.539+1242C>T	XM_017022263.2:c.539+1242C>G
OCA2 transcript variant X20	XM_017022264.2:c.539+1242=	XM_017022264.2:c.539+1242C>T	XM_017022264.2:c.539+1242C>G
OCA2 transcript variant X27	XM_017022265.2:c.539+1242=	XM_017022265.2:c.539+1242C>T	XM_017022265.2:c.539+1242C>G
OCA2 transcript variant X6	XM_047432605.1:c.515+1242=	XM_047432605.1:c.515+1242C>T	XM_047432605.1:c.515+1242C>G
OCA2 transcript variant X7	XM_047432606.1:c.515+1242=	XM_047432606.1:c.515+1242C>T	XM_047432606.1:c.515+1242C>G
OCA2 transcript variant X10	XM_047432607.1:c.539+1242=	XM_047432607.1:c.539+1242C>T	XM_047432607.1:c.539+1242C>G
OCA2 transcript variant X11	XM_047432608.1:c.515+1242=	XM_047432608.1:c.515+1242C>T	XM_047432608.1:c.515+1242C>G
OCA2 transcript variant X12	XM_047432609.1:c.515+1242=	XM_047432609.1:c.515+1242C>T	XM_047432609.1:c.515+1242C>G
OCA2 transcript variant X13	XM_047432610.1:c.539+1242=	XM_047432610.1:c.539+1242C>T	XM_047432610.1:c.539+1242C>G
OCA2 transcript variant X16	XM_047432611.1:c.515+1242=	XM_047432611.1:c.515+1242C>T	XM_047432611.1:c.515+1242C>G
OCA2 transcript variant X18	XM_047432612.1:c.515+1242=	XM_047432612.1:c.515+1242C>T	XM_047432612.1:c.515+1242C>G
OCA2 transcript variant X19	XM_047432613.1:c.515+1242=	XM_047432613.1:c.515+1242C>T	XM_047432613.1:c.515+1242C>G
OCA2 transcript variant X21	XM_047432614.1:c.515+1242=	XM_047432614.1:c.515+1242C>T	XM_047432614.1:c.515+1242C>G
OCA2 transcript variant X22	XM_047432615.1:c.539+1242=	XM_047432615.1:c.539+1242C>T	XM_047432615.1:c.539+1242C>G
OCA2 transcript variant X23	XM_047432616.1:c.539+1242=	XM_047432616.1:c.539+1242C>T	XM_047432616.1:c.539+1242C>G
OCA2 transcript variant X24	XM_047432617.1:c.515+1242=	XM_047432617.1:c.515+1242C>T	XM_047432617.1:c.515+1242C>G
OCA2 transcript variant X25	XM_047432618.1:c.515+1242=	XM_047432618.1:c.515+1242C>T	XM_047432618.1:c.515+1242C>G
OCA2 transcript variant X26	XM_047432619.1:c.515+1242=	XM_047432619.1:c.515+1242C>T	XM_047432619.1:c.515+1242C>G

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#.

52 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss19326497	Feb 28, 2004 (120)
2	GMI	ss156359992	Dec 01, 2009 (131)
3	ENSEMBL	ss161704094	Dec 01, 2009 (131)
4	BUSHMAN	ss200653840	Jul 04, 2010 (132)
5	1000GENOMES	ss236722521	Jul 15, 2010 (132)
6	1000GENOMES	ss243120529	Jul 15, 2010 (132)
7	GMI	ss282192802	May 04, 2012 (137)
8	TISHKOFF	ss564383417	Apr 25, 2013 (138)
9	SSMP	ss660095509	Apr 25, 2013 (138)
10	EVA-GONL	ss991624074	Aug 21, 2014 (142)
11	JMKIDD_LAB	ss1080003103	Aug 21, 2014 (142)
12	1000GENOMES	ss1352820234	Aug 21, 2014 (142)
13	EVA_GENOME_DK	ss1577522809	Apr 01, 2015 (144)
14	EVA_UK10K_ALSPAC	ss1632670656	Apr 01, 2015 (144)
15	EVA_UK10K_TWINSUK	ss1675664689	Apr 01, 2015 (144)
16	EVA_DECODE	ss1695635672	Apr 01, 2015 (144)
17	WEILL_CORNELL_DGM	ss1935021111	Feb 12, 2016 (147)
18	GENOMED	ss1968070703	Jul 19, 2016 (147)
19	JJLAB	ss2028290889	Sep 14, 2016 (149)
20	USC_VALOUEV	ss2156687879	Dec 20, 2016 (150)
21	HUMAN_LONGEVITY	ss2205526385	Dec 20, 2016 (150)
22	SYSTEMSBIOZJU	ss2628638608	Nov 08, 2017 (151)
23	GRF	ss2701146905	Nov 08, 2017 (151)
24	GNOMAD	ss2932983873	Nov 08, 2017 (151)
25	SWEGEN	ss3013005649	Nov 08, 2017 (151)
26	BIOINF_KMB_FNS_UNIBA	ss3027969694	Nov 08, 2017 (151)
27	CSHL	ss3351041867	Nov 08, 2017 (151)
28	EGCUT_WGS	ss3680177191	Jul 13, 2019 (153)
29	EVA_DECODE	ss3697584025	Jul 13, 2019 (153)
30	ACPOP	ss3740787011	Jul 13, 2019 (153)
31	EVA	ss3752891034	Jul 13, 2019 (153)
32	KHV_HUMAN_GENOMES	ss3818208244	Jul 13, 2019 (153)
33	EVA	ss3834156552	Apr 27, 2020 (154)
34	SGDP_PRJ	ss3882551504	Apr 27, 2020 (154)
35	KRGDB	ss3931675418	Apr 27, 2020 (154)
36	KOGIC	ss3975852875	Apr 27, 2020 (154)
37	EVA	ss3985707022	Apr 26, 2021 (155)
38	VINODS	ss4031999150	Apr 26, 2021 (155)
39	TOPMED	ss4985711251	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5215403858	Apr 26, 2021 (155)
41	1000G_HIGH_COVERAGE	ss5297859430	Oct 16, 2022 (156)
42	EVA	ss5418193642	Oct 16, 2022 (156)
43	HUGCELL_USP	ss5491675799	Oct 16, 2022 (156)
44	EVA	ss5511382651	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5598970386	Oct 16, 2022 (156)
46	SANFORD_IMAGENETICS	ss5657174955	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5768978517	Oct 16, 2022 (156)
48	YY_MCH	ss5815188180	Oct 16, 2022 (156)
49	EVA	ss5827983059	Oct 16, 2022 (156)
50	EVA	ss5851227619	Oct 16, 2022 (156)
51	EVA	ss5875249086	Oct 16, 2022 (156)
52	EVA	ss5948585468	Oct 16, 2022 (156)
53	1000Genomes	NC_000015.9 - 28271775	Oct 12, 2018 (152)
54	1000Genomes_30x	NC_000015.10 - 28026629	Oct 16, 2022 (156)
55	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 28271775	Oct 12, 2018 (152)
56	Genetic variation in the Estonian population	NC_000015.9 - 28271775	Oct 12, 2018 (152)
57	The Danish reference pan genome	NC_000015.9 - 28271775	Apr 27, 2020 (154)
58	gnomAD - Genomes	NC_000015.10 - 28026629	Apr 26, 2021 (155)
59	Genome of the Netherlands Release 5	NC_000015.9 - 28271775	Apr 27, 2020 (154)
60	HapMap	NC_000015.10 - 28026629	Apr 27, 2020 (154)
61	KOREAN population from KRGDB	NC_000015.9 - 28271775	Apr 27, 2020 (154)
62	Korean Genome Project	NC_000015.10 - 28026629	Apr 27, 2020 (154)
63	Northern Sweden	NC_000015.9 - 28271775	Jul 13, 2019 (153)
64	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000015.9 - 28271775	Apr 26, 2021 (155)
65	Qatari	NC_000015.9 - 28271775	Apr 27, 2020 (154)
66	SGDP_PRJ	NC_000015.9 - 28271775	Apr 27, 2020 (154)
67	Siberian	NC_000015.9 - 28271775	Apr 27, 2020 (154)
68	8.3KJPN	NC_000015.9 - 28271775	Apr 26, 2021 (155)
69	14KJPN	NC_000015.10 - 28026629	Oct 16, 2022 (156)
70	TopMed	NC_000015.10 - 28026629	Apr 26, 2021 (155)
71	UK 10K study - Twins	NC_000015.9 - 28271775	Oct 12, 2018 (152)
72	A Vietnamese Genetic Variation Database	NC_000015.9 - 28271775	Jul 13, 2019 (153)
73	ALFA	NC_000015.10 - 28026629	Apr 26, 2021 (155)

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
ss200653840, ss282192802, ss1695635672	NC_000015.8:25945369:G:A	NC_000015.10:28026628:G:A	(self)
65867318, 36574666, 25915439, 3792544, 16338007, 38852812, 14071876, 932949, 17063041, 34568484, 9204233, 73373165, 36574666, 8137768, ss236722521, ss243120529, ss564383417, ss660095509, ss991624074, ss1080003103, ss1352820234, ss1577522809, ss1632670656, ss1675664689, ss1935021111, ss1968070703, ss2028290889, ss2156687879, ss2628638608, ss2701146905, ss2932983873, ss3013005649, ss3351041867, ss3680177191, ss3740787011, ss3752891034, ss3834156552, ss3882551504, ss3931675418, ss3985707022, ss5215403858, ss5418193642, ss5511382651, ss5657174955, ss5827983059, ss5948585468	NC_000015.9:28271774:G:A	NC_000015.10:28026628:G:A	(self)
86496321, 464269161, 1232536, 32230876, 102815621, 201256911, 8598375118, ss2205526385, ss3027969694, ss3697584025, ss3818208244, ss3975852875, ss4985711251, ss5297859430, ss5491675799, ss5598970386, ss5768978517, ss5815188180, ss5851227619, ss5875249086	NC_000015.10:28026628:G:A	NC_000015.10:28026628:G:A	(self)
ss19326497	NT_010280.16:637265:G:A	NC_000015.10:28026628:G:A	(self)
ss156359992, ss161704094	NT_026446.14:4706921:G:A	NC_000015.10:28026628:G:A	(self)
ss4031999150	NT_187660.1:160927:G:A	NC_000015.10:28026628:G:A	(self)
ss2205526385	NC_000015.10:28026628:G:C	NC_000015.10:28026628:G:C	(self)

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

No publications for rs12441727

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs12441727