Name: rs2295767
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.

rs2295767

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:2954323 (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=0.205399 (54367/264690, TOPMED)
T=0.161394 (33098/205076, GENOGRAPHIC)
T=0.217128 (30374/139890, GnomAD) (+ 21 more)
T=0.14905 (11041/74076, ALFA)
T=0.16293 (4604/28258, 14KJPN)
T=0.16390 (2747/16760, 8.3KJPN)
T=0.2149 (1376/6404, 1000G_30x)
T=0.2161 (1082/5008, 1000G)
T=0.1683 (754/4480, Estonian)
T=0.1567 (604/3854, ALSPAC)
T=0.1553 (576/3708, TWINSUK)
T=0.1396 (408/2922, KOREAN)
T=0.1782 (371/2082, HGDP_Stanford)
T=0.2529 (478/1890, HapMap)
T=0.1403 (257/1832, Korea1K)
T=0.139 (139/998, GoNL)
T=0.085 (53/626, Chileans)
T=0.157 (94/600, NorthernSweden)
T=0.241 (52/216, Qatari)
T=0.233 (49/210, Vietnamese)
C=0.465 (80/172, SGDP_PRJ)
T=0.22 (16/74, Ancient Sardinia)
T=0.17 (7/40, GENOME_DK)
C=0.45 (9/20, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SERPINB6 : 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	74076	C=0.85095	A=0.00000, T=0.14905	0.728198	0.026297	0.245505	21
European	Sub	59770	C=0.85596	A=0.00000, T=0.14404	0.734014	0.022085	0.243902	2
African	Sub	3592	C=0.7700	A=0.0000, T=0.2300	0.620824	0.080735	0.298441	24
African Others	Sub	128	C=0.797	A=0.000, T=0.203	0.65625	0.0625	0.28125	1
African American	Sub	3464	C=0.7691	A=0.0000, T=0.2309	0.619515	0.081409	0.299076	23
Asian	Sub	202	C=0.856	A=0.000, T=0.144	0.732673	0.019802	0.247525	0
East Asian	Sub	136	C=0.853	A=0.000, T=0.147	0.720588	0.014706	0.264706	0
Other Asian	Sub	66	C=0.86	A=0.00, T=0.14	0.757576	0.030303	0.212121	0
Latin American 1	Sub	344	C=0.855	A=0.000, T=0.145	0.738372	0.02907	0.232558	0
Latin American 2	Sub	3262	C=0.9169	A=0.0000, T=0.0831	0.843654	0.00981	0.146536	2
South Asian	Sub	4934	C=0.7967	A=0.0000, T=0.2033	0.642481	0.049047	0.308472	4
Other	Sub	1972	C=0.8717	A=0.0000, T=0.1283	0.768763	0.025355	0.205882	4

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=0.794601	T=0.205399
Genographic Project	Global	Study-wide	205076	C=0.838606	T=0.161394
gnomAD - Genomes	Global	Study-wide	139890	C=0.782872	T=0.217128
gnomAD - Genomes	European	Sub	75808	C=0.82863	T=0.17137
gnomAD - Genomes	African	Sub	41880	C=0.65857	T=0.34143
gnomAD - Genomes	American	Sub	13612	C=0.87753	T=0.12247
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.8421	T=0.1579
gnomAD - Genomes	East Asian	Sub	3130	C=0.8390	T=0.1610
gnomAD - Genomes	Other	Sub	2142	C=0.8184	T=0.1816
Allele Frequency Aggregator	Total	Global	74076	C=0.85095	A=0.00000, T=0.14905
Allele Frequency Aggregator	European	Sub	59770	C=0.85596	A=0.00000, T=0.14404
Allele Frequency Aggregator	South Asian	Sub	4934	C=0.7967	A=0.0000, T=0.2033
Allele Frequency Aggregator	African	Sub	3592	C=0.7700	A=0.0000, T=0.2300
Allele Frequency Aggregator	Latin American 2	Sub	3262	C=0.9169	A=0.0000, T=0.0831
Allele Frequency Aggregator	Other	Sub	1972	C=0.8717	A=0.0000, T=0.1283
Allele Frequency Aggregator	Latin American 1	Sub	344	C=0.855	A=0.000, T=0.145
Allele Frequency Aggregator	Asian	Sub	202	C=0.856	A=0.000, T=0.144
14KJPN	JAPANESE	Study-wide	28258	C=0.83707	T=0.16293
8.3KJPN	JAPANESE	Study-wide	16760	C=0.83610	T=0.16390
1000Genomes_30x	Global	Study-wide	6404	C=0.7851	T=0.2149
1000Genomes_30x	African	Sub	1786	C=0.6338	T=0.3662
1000Genomes_30x	Europe	Sub	1266	C=0.8349	T=0.1651
1000Genomes_30x	South Asian	Sub	1202	C=0.8195	T=0.1805
1000Genomes_30x	East Asian	Sub	1170	C=0.8299	T=0.1701
1000Genomes_30x	American	Sub	980	C=0.901	T=0.099
1000Genomes	Global	Study-wide	5008	C=0.7839	T=0.2161
1000Genomes	African	Sub	1322	C=0.6286	T=0.3714
1000Genomes	East Asian	Sub	1008	C=0.8264	T=0.1736
1000Genomes	Europe	Sub	1006	C=0.8310	T=0.1690
1000Genomes	South Asian	Sub	978	C=0.817	T=0.183
1000Genomes	American	Sub	694	C=0.903	T=0.097
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8317	T=0.1683
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8433	T=0.1567
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8447	T=0.1553
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.8604	T=0.1396
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	C=0.8218	T=0.1782
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	468	C=0.833	T=0.167
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.742	T=0.258
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.789	T=0.211
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.875	T=0.125
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.707	T=0.293
HGDP-CEPH-db Supplement 1	America	Sub	216	C=1.000	T=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.99	T=0.01
HapMap	Global	Study-wide	1890	C=0.7471	T=0.2529
HapMap	American	Sub	768	C=0.801	T=0.199
HapMap	African	Sub	692	C=0.621	T=0.379
HapMap	Asian	Sub	254	C=0.858	T=0.142
HapMap	Europe	Sub	176	C=0.847	T=0.153
Korean Genome Project	KOREAN	Study-wide	1832	C=0.8597	T=0.1403
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.861	T=0.139
Chileans	Chilean	Study-wide	626	C=0.915	T=0.085
Northern Sweden	ACPOP	Study-wide	600	C=0.843	T=0.157
Qatari	Global	Study-wide	216	C=0.759	T=0.241
A Vietnamese Genetic Variation Database	Global	Study-wide	210	C=0.767	T=0.233
SGDP_PRJ	Global	Study-wide	172	C=0.465	T=0.535
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	74	C=0.78	T=0.22
The Danish reference pan genome	Danish	Study-wide	40	C=0.82	T=0.17
Siberian	Global	Study-wide	20	C=0.45	T=0.55

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 6	NC_000006.12:g.2954323C>A
GRCh38.p14 chr 6	NC_000006.12:g.2954323C>T
GRCh37.p13 chr 6	NC_000006.11:g.2954557C>A
GRCh37.p13 chr 6	NC_000006.11:g.2954557C>T
SERPINB6 RefSeqGene	NG_027692.1:g.22843G>T
SERPINB6 RefSeqGene	NG_027692.1:g.22843G>A

Gene: SERPINB6, serpin family B member 6 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SERPINB6 transcript variant 2	NM_001195291.3:c.442+269G… NM_001195291.3:c.442+269G>T	N/A	Intron Variant
SERPINB6 transcript variant 3	NM_001271822.2:c.472+269G… NM_001271822.2:c.472+269G>T	N/A	Intron Variant
SERPINB6 transcript variant 4	NM_001271823.2:c.487+269G… NM_001271823.2:c.487+269G>T	N/A	Intron Variant
SERPINB6 transcript variant 5	NM_001271824.2:c.430+269G… NM_001271824.2:c.430+269G>T	N/A	Intron Variant
SERPINB6 transcript variant 6	NM_001271825.2:c.430+269G… NM_001271825.2:c.430+269G>T	N/A	Intron Variant
SERPINB6 transcript variant 7	NM_001297699.2:c.430+269G… NM_001297699.2:c.430+269G>T	N/A	Intron Variant
SERPINB6 transcript variant 8	NM_001297700.2:c.430+269G… NM_001297700.2:c.430+269G>T	N/A	Intron Variant
SERPINB6 transcript variant 9	NM_001374515.1:c.442+269G… NM_001374515.1:c.442+269G>T	N/A	Intron Variant
SERPINB6 transcript variant 10	NM_001374516.1:c.430+269G… NM_001374516.1:c.430+269G>T	N/A	Intron Variant
SERPINB6 transcript variant 11	NM_001374517.1:c.298+269G… NM_001374517.1:c.298+269G>T	N/A	Intron Variant
SERPINB6 transcript variant 1	NM_004568.6:c.430+269G>T	N/A	Intron Variant
SERPINB6 transcript variant 12	NR_164657.1:n.	N/A	Intron Variant
SERPINB6 transcript variant X2	XM_011514672.2:c.664+269G… XM_011514672.2:c.664+269G>T	N/A	Intron Variant
SERPINB6 transcript variant X10	XM_017010941.2:c.298+269G… XM_017010941.2:c.298+269G>T	N/A	Intron Variant
SERPINB6 transcript variant X13	XM_024446465.2:c.298+269G… XM_024446465.2:c.298+269G>T	N/A	Intron Variant
SERPINB6 transcript variant X1	XM_047418883.1:c.664+269G… XM_047418883.1:c.664+269G>T	N/A	Intron Variant
SERPINB6 transcript variant X3	XM_047418884.1:c.664+269G… XM_047418884.1:c.664+269G>T	N/A	Intron Variant
SERPINB6 transcript variant X4	XM_047418885.1:c.664+269G… XM_047418885.1:c.664+269G>T	N/A	Intron Variant
SERPINB6 transcript variant X5	XM_047418887.1:c.664+269G… XM_047418887.1:c.664+269G>T	N/A	Intron Variant
SERPINB6 transcript variant X6	XM_047418888.1:c.664+269G… XM_047418888.1:c.664+269G>T	N/A	Intron Variant
SERPINB6 transcript variant X7	XM_047418889.1:c.442+269G… XM_047418889.1:c.442+269G>T	N/A	Intron Variant
SERPINB6 transcript variant X11	XM_047418890.1:c.442+269G… XM_047418890.1:c.442+269G>T	N/A	Intron Variant
SERPINB6 transcript variant X12	XM_047418891.1:c.430+269G… XM_047418891.1:c.430+269G>T	N/A	Intron Variant
SERPINB6 transcript variant X8	XM_047418892.1:c.430+269G… XM_047418892.1:c.430+269G>T	N/A	Intron Variant
SERPINB6 transcript variant X9	XM_047418893.1:c.298+269G… XM_047418893.1:c.298+269G>T	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: 1266186 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001688508.1	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 6	NC_000006.12:g.2954323=	NC_000006.12:g.2954323C>A	NC_000006.12:g.2954323C>T
GRCh37.p13 chr 6	NC_000006.11:g.2954557=	NC_000006.11:g.2954557C>A	NC_000006.11:g.2954557C>T
SERPINB6 RefSeqGene	NG_027692.1:g.22843=	NG_027692.1:g.22843G>T	NG_027692.1:g.22843G>A
SERPINB6 transcript variant 2	NM_001195291.2:c.442+269=	NM_001195291.2:c.442+269G>T	NM_001195291.2:c.442+269G>A
SERPINB6 transcript variant 2	NM_001195291.3:c.442+269=	NM_001195291.3:c.442+269G>T	NM_001195291.3:c.442+269G>A
SERPINB6 transcript variant 3	NM_001271822.1:c.472+269=	NM_001271822.1:c.472+269G>T	NM_001271822.1:c.472+269G>A
SERPINB6 transcript variant 3	NM_001271822.2:c.472+269=	NM_001271822.2:c.472+269G>T	NM_001271822.2:c.472+269G>A
SERPINB6 transcript variant 4	NM_001271823.1:c.487+269=	NM_001271823.1:c.487+269G>T	NM_001271823.1:c.487+269G>A
SERPINB6 transcript variant 4	NM_001271823.2:c.487+269=	NM_001271823.2:c.487+269G>T	NM_001271823.2:c.487+269G>A
SERPINB6 transcript variant 5	NM_001271824.1:c.430+269=	NM_001271824.1:c.430+269G>T	NM_001271824.1:c.430+269G>A
SERPINB6 transcript variant 5	NM_001271824.2:c.430+269=	NM_001271824.2:c.430+269G>T	NM_001271824.2:c.430+269G>A
SERPINB6 transcript variant 6	NM_001271825.1:c.430+269=	NM_001271825.1:c.430+269G>T	NM_001271825.1:c.430+269G>A
SERPINB6 transcript variant 6	NM_001271825.2:c.430+269=	NM_001271825.2:c.430+269G>T	NM_001271825.2:c.430+269G>A
SERPINB6 transcript variant 7	NM_001297699.2:c.430+269=	NM_001297699.2:c.430+269G>T	NM_001297699.2:c.430+269G>A
SERPINB6 transcript variant 8	NM_001297700.2:c.430+269=	NM_001297700.2:c.430+269G>T	NM_001297700.2:c.430+269G>A
SERPINB6 transcript variant 9	NM_001374515.1:c.442+269=	NM_001374515.1:c.442+269G>T	NM_001374515.1:c.442+269G>A
SERPINB6 transcript variant 10	NM_001374516.1:c.430+269=	NM_001374516.1:c.430+269G>T	NM_001374516.1:c.430+269G>A
SERPINB6 transcript variant 11	NM_001374517.1:c.298+269=	NM_001374517.1:c.298+269G>T	NM_001374517.1:c.298+269G>A
SERPINB6 transcript variant 1	NM_004568.5:c.430+269=	NM_004568.5:c.430+269G>T	NM_004568.5:c.430+269G>A
SERPINB6 transcript variant 1	NM_004568.6:c.430+269=	NM_004568.6:c.430+269G>T	NM_004568.6:c.430+269G>A
SERPINB6 transcript variant X1	XM_005249181.1:c.529+269=	XM_005249181.1:c.529+269G>T	XM_005249181.1:c.529+269G>A
SERPINB6 transcript variant X2	XM_005249182.1:c.430+269=	XM_005249182.1:c.430+269G>T	XM_005249182.1:c.430+269G>A
SERPINB6 transcript variant X3	XM_005249183.1:c.163+269=	XM_005249183.1:c.163+269G>T	XM_005249183.1:c.163+269G>A
SERPINB6 transcript variant X2	XM_011514672.2:c.664+269=	XM_011514672.2:c.664+269G>T	XM_011514672.2:c.664+269G>A
SERPINB6 transcript variant X10	XM_017010941.2:c.298+269=	XM_017010941.2:c.298+269G>T	XM_017010941.2:c.298+269G>A
SERPINB6 transcript variant X13	XM_024446465.2:c.298+269=	XM_024446465.2:c.298+269G>T	XM_024446465.2:c.298+269G>A
SERPINB6 transcript variant X1	XM_047418883.1:c.664+269=	XM_047418883.1:c.664+269G>T	XM_047418883.1:c.664+269G>A
SERPINB6 transcript variant X3	XM_047418884.1:c.664+269=	XM_047418884.1:c.664+269G>T	XM_047418884.1:c.664+269G>A
SERPINB6 transcript variant X4	XM_047418885.1:c.664+269=	XM_047418885.1:c.664+269G>T	XM_047418885.1:c.664+269G>A
SERPINB6 transcript variant X5	XM_047418887.1:c.664+269=	XM_047418887.1:c.664+269G>T	XM_047418887.1:c.664+269G>A
SERPINB6 transcript variant X6	XM_047418888.1:c.664+269=	XM_047418888.1:c.664+269G>T	XM_047418888.1:c.664+269G>A
SERPINB6 transcript variant X7	XM_047418889.1:c.442+269=	XM_047418889.1:c.442+269G>T	XM_047418889.1:c.442+269G>A
SERPINB6 transcript variant X11	XM_047418890.1:c.442+269=	XM_047418890.1:c.442+269G>T	XM_047418890.1:c.442+269G>A
SERPINB6 transcript variant X12	XM_047418891.1:c.430+269=	XM_047418891.1:c.430+269G>T	XM_047418891.1:c.430+269G>A
SERPINB6 transcript variant X8	XM_047418892.1:c.430+269=	XM_047418892.1:c.430+269G>T	XM_047418892.1:c.430+269G>A
SERPINB6 transcript variant X9	XM_047418893.1:c.298+269=	XM_047418893.1:c.298+269G>T	XM_047418893.1:c.298+269G>A

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#.

91 SubSNP, 24 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3239643	Sep 28, 2001 (100)
2	WI_SSAHASNP	ss11776512	Jul 11, 2003 (116)
3	SC_SNP	ss15409663	Feb 27, 2004 (120)
4	AFFY	ss66265574	Nov 29, 2006 (127)
5	ILLUMINA	ss66806748	Nov 29, 2006 (127)
6	ILLUMINA	ss67243850	Nov 29, 2006 (127)
7	ILLUMINA	ss67640741	Nov 29, 2006 (127)
8	PERLEGEN	ss68962602	May 16, 2007 (127)
9	ILLUMINA	ss70722186	May 24, 2008 (130)
10	ILLUMINA	ss71290657	May 16, 2007 (127)
11	ILLUMINA	ss75856894	Dec 07, 2007 (129)
12	AFFY	ss76410640	Dec 07, 2007 (129)
13	HGSV	ss78917377	Dec 07, 2007 (129)
14	ILLUMINA	ss79127803	Dec 15, 2007 (130)
15	KRIBB_YJKIM	ss84026554	Dec 15, 2007 (130)
16	ILLUMINA-UK	ss116272638	Feb 14, 2009 (130)
17	ILLUMINA	ss121992744	Dec 01, 2009 (131)
18	ILLUMINA	ss153901109	Dec 01, 2009 (131)
19	ILLUMINA	ss159378924	Dec 01, 2009 (131)
20	ILLUMINA	ss171174451	Jul 04, 2010 (132)
21	ILLUMINA	ss173266478	Jul 04, 2010 (132)
22	AFFY	ss173502263	Jul 04, 2010 (132)
23	1000GENOMES	ss222170892	Jul 14, 2010 (132)
24	1000GENOMES	ss233296329	Jul 14, 2010 (132)
25	1000GENOMES	ss240387744	Jul 15, 2010 (132)
26	BL	ss253989409	May 09, 2011 (134)
27	GMI	ss278626744	May 04, 2012 (137)
28	PJP	ss293584965	May 09, 2011 (134)
29	ILLUMINA	ss537072898	Sep 08, 2015 (146)
30	TISHKOFF	ss558958210	Apr 25, 2013 (138)
31	SSMP	ss652870089	Apr 25, 2013 (138)
32	ILLUMINA	ss825458321	Apr 01, 2015 (144)
33	ILLUMINA	ss832890718	Jul 13, 2019 (153)
34	EVA-GONL	ss982515938	Aug 21, 2014 (142)
35	JMKIDD_LAB	ss1073329487	Aug 21, 2014 (142)
36	1000GENOMES	ss1318717982	Aug 21, 2014 (142)
37	DDI	ss1430616174	Apr 01, 2015 (144)
38	EVA_GENOME_DK	ss1581504468	Apr 01, 2015 (144)
39	EVA_DECODE	ss1592061563	Apr 01, 2015 (144)
40	EVA_UK10K_ALSPAC	ss1614811410	Apr 01, 2015 (144)
41	EVA_UK10K_TWINSUK	ss1657805443	Apr 01, 2015 (144)
42	EVA_SVP	ss1712829980	Apr 01, 2015 (144)
43	WEILL_CORNELL_DGM	ss1925773205	Feb 12, 2016 (147)
44	JJLAB	ss2023501128	Sep 14, 2016 (149)
45	ILLUMINA	ss2094820126	Dec 20, 2016 (150)
46	ILLUMINA	ss2095169438	Dec 20, 2016 (150)
47	USC_VALOUEV	ss2151663048	Dec 20, 2016 (150)
48	HUMAN_LONGEVITY	ss2281271904	Dec 20, 2016 (150)
49	SYSTEMSBIOZJU	ss2626238872	Nov 08, 2017 (151)
50	GRF	ss2707247765	Nov 08, 2017 (151)
51	GNOMAD	ss2835087617	Nov 08, 2017 (151)
52	SWEGEN	ss2998412200	Nov 08, 2017 (151)
53	BIOINF_KMB_FNS_UNIBA	ss3025534026	Nov 08, 2017 (151)
54	CSHL	ss3346804502	Nov 08, 2017 (151)
55	ILLUMINA	ss3625892493	Oct 12, 2018 (152)
56	ILLUMINA	ss3629428063	Oct 12, 2018 (152)
57	ILLUMINA	ss3638602958	Oct 12, 2018 (152)
58	ILLUMINA	ss3639304055	Oct 12, 2018 (152)
59	ILLUMINA	ss3639676888	Oct 12, 2018 (152)
60	ILLUMINA	ss3643545154	Oct 12, 2018 (152)
61	ILLUMINA	ss3653076128	Oct 12, 2018 (152)
62	EGCUT_WGS	ss3666335249	Jul 13, 2019 (153)
63	EVA_DECODE	ss3716454982	Jul 13, 2019 (153)
64	ACPOP	ss3733145454	Jul 13, 2019 (153)
65	EVA	ss3764532025	Jul 13, 2019 (153)
66	PACBIO	ss3785353799	Jul 13, 2019 (153)
67	PACBIO	ss3790721907	Jul 13, 2019 (153)
68	PACBIO	ss3795599064	Jul 13, 2019 (153)
69	KHV_HUMAN_GENOMES	ss3807692912	Jul 13, 2019 (153)
70	EVA	ss3829696561	Apr 26, 2020 (154)
71	HGDP	ss3847820211	Apr 26, 2020 (154)
72	SGDP_PRJ	ss3863782870	Apr 26, 2020 (154)
73	KRGDB	ss3910516380	Apr 26, 2020 (154)
74	KOGIC	ss3958375439	Apr 26, 2020 (154)
75	EVA	ss3985194833	Apr 26, 2021 (155)
76	EVA	ss4017251393	Apr 26, 2021 (155)
77	TOPMED	ss4691574172	Apr 26, 2021 (155)
78	TOMMO_GENOMICS	ss5175874560	Apr 26, 2021 (155)
79	1000G_HIGH_COVERAGE	ss5267175931	Oct 13, 2022 (156)
80	GENOGRAPHIC	ss5314511349	Oct 13, 2022 (156)
81	EVA	ss5363402595	Oct 13, 2022 (156)
82	HUGCELL_USP	ss5464990634	Oct 13, 2022 (156)
83	EVA	ss5508328769	Oct 13, 2022 (156)
84	1000G_HIGH_COVERAGE	ss5552497102	Oct 13, 2022 (156)
85	SANFORD_IMAGENETICS	ss5639637776	Oct 13, 2022 (156)
86	TOMMO_GENOMICS	ss5713458428	Oct 13, 2022 (156)
87	YY_MCH	ss5807095231	Oct 13, 2022 (156)
88	EVA	ss5841703743	Oct 13, 2022 (156)
89	EVA	ss5855173827	Oct 13, 2022 (156)
90	EVA	ss5882395757	Oct 13, 2022 (156)
91	EVA	ss5968130765	Oct 13, 2022 (156)
92	1000Genomes	NC_000006.11 - 2954557	Oct 12, 2018 (152)
93	1000Genomes_30x	NC_000006.12 - 2954323	Oct 13, 2022 (156)
94	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 2954557	Oct 12, 2018 (152)
95	Chileans	NC_000006.11 - 2954557	Apr 26, 2020 (154)
96	Genetic variation in the Estonian population	NC_000006.11 - 2954557	Oct 12, 2018 (152)
97	Genographic Project	NC_000006.12 - 2954323	Oct 13, 2022 (156)
98	The Danish reference pan genome	NC_000006.11 - 2954557	Apr 26, 2020 (154)
99	gnomAD - Genomes	NC_000006.12 - 2954323	Apr 26, 2021 (155)
100	Genome of the Netherlands Release 5	NC_000006.11 - 2954557	Apr 26, 2020 (154)
101	HGDP-CEPH-db Supplement 1	NC_000006.10 - 2899556	Apr 26, 2020 (154)
102	HapMap	NC_000006.12 - 2954323	Apr 26, 2020 (154)
103	KOREAN population from KRGDB	NC_000006.11 - 2954557	Apr 26, 2020 (154)
104	Korean Genome Project	NC_000006.12 - 2954323	Apr 26, 2020 (154)
105	Northern Sweden	NC_000006.11 - 2954557	Jul 13, 2019 (153)
106	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 2954557	Apr 26, 2021 (155)
107	Qatari	NC_000006.11 - 2954557	Apr 26, 2020 (154)
108	SGDP_PRJ	NC_000006.11 - 2954557	Apr 26, 2020 (154)
109	Siberian	NC_000006.11 - 2954557	Apr 26, 2020 (154)
110	8.3KJPN	NC_000006.11 - 2954557	Apr 26, 2021 (155)
111	14KJPN	NC_000006.12 - 2954323	Oct 13, 2022 (156)
112	TopMed	NC_000006.12 - 2954323	Apr 26, 2021 (155)
113	UK 10K study - Twins	NC_000006.11 - 2954557	Oct 12, 2018 (152)
114	A Vietnamese Genetic Variation Database	NC_000006.11 - 2954557	Jul 13, 2019 (153)
115	ALFA	NC_000006.12 - 2954323	Apr 26, 2021 (155)
116	ClinVar	RCV001688508.1	Oct 13, 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).

Associated ID	History Updated (Build)
rs58284269	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1542707381	NC_000006.12:2954322:C:A	NC_000006.12:2954322:C:A	(self)
ss78917377, ss3639304055, ss3639676888	NC_000006.9:2899555:C:T	NC_000006.12:2954322:C:T	(self)
498103, ss66265574, ss76410640, ss116272638, ss173502263, ss253989409, ss278626744, ss293584965, ss825458321, ss1592061563, ss1712829980, ss3643545154, ss3847820211	NC_000006.10:2899555:C:T	NC_000006.12:2954322:C:T	(self)
30450404, 16948576, 369016, 12073497, 7669407, 7522889, 17693774, 6430319, 420760, 7815135, 15799850, 4179402, 33843867, 16948576, 3753721, ss222170892, ss233296329, ss240387744, ss537072898, ss558958210, ss652870089, ss832890718, ss982515938, ss1073329487, ss1318717982, ss1430616174, ss1581504468, ss1614811410, ss1657805443, ss1925773205, ss2023501128, ss2094820126, ss2095169438, ss2151663048, ss2626238872, ss2707247765, ss2835087617, ss2998412200, ss3346804502, ss3625892493, ss3629428063, ss3638602958, ss3653076128, ss3666335249, ss3733145454, ss3764532025, ss3785353799, ss3790721907, ss3795599064, ss3829696561, ss3863782870, ss3910516380, ss3985194833, ss4017251393, ss5175874560, ss5363402595, ss5508328769, ss5639637776, ss5841703743, ss5968130765	NC_000006.11:2954556:C:T	NC_000006.12:2954322:C:T	(self)
RCV001688508.1, 40023037, 10688, 215319432, 3045857, 14753440, 47295532, 528951730, 1542707381, ss2281271904, ss3025534026, ss3716454982, ss3807692912, ss3958375439, ss4691574172, ss5267175931, ss5314511349, ss5464990634, ss5552497102, ss5713458428, ss5807095231, ss5855173827, ss5882395757	NC_000006.12:2954322:C:T	NC_000006.12:2954322:C:T	(self)
ss3239643, ss66806748, ss67243850, ss67640741, ss68962602, ss70722186, ss71290657, ss75856894, ss79127803, ss84026554, ss121992744, ss153901109, ss159378924, ss171174451, ss173266478	NT_007592.15:2894556:C:T	NC_000006.12:2954322:C:T	(self)
ss11776512	NT_034880.2:2894555:C:T	NC_000006.12:2954322:C:T	(self)
ss15409663	NT_034880.3:2894555:C:T	NC_000006.12:2954322:C:T	(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 rs2295767

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

rs2295767