Name: rs2244693
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.

rs2244693

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:2953018 (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>A / T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.352280 (93245/264690, TOPMED)
T=0.318433 (79942/251048, GnomAD_exome)
T=0.363243 (50899/140124, GnomAD) (+ 22 more)
T=0.324100 (39327/121342, ExAC)
T=0.32672 (10414/31874, ALFA)
T=0.21987 (6213/28258, 14KJPN)
T=0.21820 (3657/16760, 8.3KJPN)
T=0.37121 (4828/13006, GO-ESP)
T=0.3367 (2156/6404, 1000G_30x)
T=0.3345 (1675/5008, 1000G)
T=0.3348 (1500/4480, Estonian)
T=0.3184 (1227/3854, ALSPAC)
T=0.3180 (1179/3708, TWINSUK)
T=0.1782 (522/2930, KOREAN)
T=0.3628 (685/1888, HapMap)
T=0.1790 (328/1832, Korea1K)
T=0.313 (312/998, GoNL)
T=0.247 (151/611, Vietnamese)
T=0.323 (194/600, NorthernSweden)
T=0.283 (151/534, MGP)
T=0.231 (120/520, SGDP_PRJ)
T=0.375 (114/304, FINRISK)
T=0.319 (69/216, Qatari)
T=0.17 (8/48, Siberian)
T=0.42 (17/40, GENOME_DK)

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	31874	T=0.32672	C=0.67328	0.113133	0.459685	0.427182	8
European	Sub	22716	T=0.30908	C=0.69092	0.096056	0.477901	0.426043	0
African	Sub	4722	T=0.4464	C=0.5536	0.211351	0.318509	0.47014	4
African Others	Sub	156	T=0.449	C=0.551	0.24359	0.346154	0.410256	2
African American	Sub	4566	T=0.4463	C=0.5537	0.21025	0.317565	0.472186	3
Asian	Sub	180	T=0.189	C=0.811	0.022222	0.644444	0.333333	0
East Asian	Sub	122	T=0.180	C=0.820	0.016393	0.655738	0.327869	0
Other Asian	Sub	58	T=0.21	C=0.79	0.034483	0.62069	0.344828	0
Latin American 1	Sub	168	T=0.315	C=0.685	0.107143	0.47619	0.416667	0
Latin American 2	Sub	670	T=0.281	C=0.719	0.086567	0.525373	0.38806	0
South Asian	Sub	98	T=0.28	C=0.72	0.122449	0.571429	0.306122	2
Other	Sub	3320	T=0.2961	C=0.7039	0.100602	0.508434	0.390964	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	T=0.352280	C=0.647720
gnomAD - Exomes	Global	Study-wide	251048	T=0.318433	C=0.681567
gnomAD - Exomes	European	Sub	135006	T=0.337526	C=0.662474
gnomAD - Exomes	Asian	Sub	48996	T=0.27851	C=0.72149
gnomAD - Exomes	American	Sub	34586	T=0.25565	C=0.74435
gnomAD - Exomes	African	Sub	16252	T=0.47120	C=0.52880
gnomAD - Exomes	Ashkenazi Jewish	Sub	10076	T=0.23601	C=0.76399
gnomAD - Exomes	Other	Sub	6132	T=0.3017	C=0.6983
gnomAD - Genomes	Global	Study-wide	140124	T=0.363243	C=0.636757
gnomAD - Genomes	European	Sub	75892	T=0.33416	C=0.66584
gnomAD - Genomes	African	Sub	41990	T=0.46385	C=0.53615
gnomAD - Genomes	American	Sub	13658	T=0.28877	C=0.71123
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.2405	C=0.7595
gnomAD - Genomes	East Asian	Sub	3116	T=0.1900	C=0.8100
gnomAD - Genomes	Other	Sub	2146	T=0.3388	C=0.6612
ExAC	Global	Study-wide	121342	T=0.324100	C=0.675900
ExAC	Europe	Sub	73316	T=0.32895	C=0.67105
ExAC	Asian	Sub	25150	T=0.28155	C=0.71845
ExAC	American	Sub	11570	T=0.25065	C=0.74935
ExAC	African	Sub	10398	T=0.47336	C=0.52664
ExAC	Other	Sub	908	T=0.338	C=0.662
Allele Frequency Aggregator	Total	Global	31874	T=0.32672	C=0.67328
Allele Frequency Aggregator	European	Sub	22716	T=0.30908	C=0.69092
Allele Frequency Aggregator	African	Sub	4722	T=0.4464	C=0.5536
Allele Frequency Aggregator	Other	Sub	3320	T=0.2961	C=0.7039
Allele Frequency Aggregator	Latin American 2	Sub	670	T=0.281	C=0.719
Allele Frequency Aggregator	Asian	Sub	180	T=0.189	C=0.811
Allele Frequency Aggregator	Latin American 1	Sub	168	T=0.315	C=0.685
Allele Frequency Aggregator	South Asian	Sub	98	T=0.28	C=0.72
14KJPN	JAPANESE	Study-wide	28258	T=0.21987	C=0.78013
8.3KJPN	JAPANESE	Study-wide	16760	T=0.21820	C=0.78180
GO Exome Sequencing Project	Global	Study-wide	13006	T=0.37121	C=0.62879
GO Exome Sequencing Project	European American	Sub	8600	T=0.3221	C=0.6779
GO Exome Sequencing Project	African American	Sub	4406	T=0.4671	C=0.5329
1000Genomes_30x	Global	Study-wide	6404	T=0.3367	C=0.6633
1000Genomes_30x	African	Sub	1786	T=0.5062	C=0.4938
1000Genomes_30x	Europe	Sub	1266	T=0.2891	C=0.7109
1000Genomes_30x	South Asian	Sub	1202	T=0.3170	C=0.6830
1000Genomes_30x	East Asian	Sub	1170	T=0.2051	C=0.7949
1000Genomes_30x	American	Sub	980	T=0.270	C=0.730
1000Genomes	Global	Study-wide	5008	T=0.3345	C=0.6655
1000Genomes	African	Sub	1322	T=0.5106	C=0.4894
1000Genomes	East Asian	Sub	1008	T=0.2113	C=0.7887
1000Genomes	Europe	Sub	1006	T=0.2932	C=0.7068
1000Genomes	South Asian	Sub	978	T=0.314	C=0.686
1000Genomes	American	Sub	694	T=0.267	C=0.733
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.3348	C=0.6652
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.3184	C=0.6816
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.3180	C=0.6820
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.1782	A=0.0000, C=0.8218
HapMap	Global	Study-wide	1888	T=0.3628	C=0.6372
HapMap	American	Sub	768	T=0.301	C=0.699
HapMap	African	Sub	692	T=0.513	C=0.487
HapMap	Asian	Sub	252	T=0.194	C=0.806
HapMap	Europe	Sub	176	T=0.284	C=0.716
Korean Genome Project	KOREAN	Study-wide	1832	T=0.1790	C=0.8210
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.313	C=0.687
A Vietnamese Genetic Variation Database	Global	Study-wide	611	T=0.247	C=0.753
Northern Sweden	ACPOP	Study-wide	600	T=0.323	C=0.677
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.283	C=0.717
SGDP_PRJ	Global	Study-wide	520	T=0.231	C=0.769
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.375	C=0.625
Qatari	Global	Study-wide	216	T=0.319	C=0.681
Siberian	Global	Study-wide	48	T=0.17	C=0.83
The Danish reference pan genome	Danish	Study-wide	40	T=0.42	C=0.57

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.2953018T>A
GRCh38.p14 chr 6	NC_000006.12:g.2953018T>C
GRCh37.p13 chr 6	NC_000006.11:g.2953252T>A
GRCh37.p13 chr 6	NC_000006.11:g.2953252T>C
SERPINB6 RefSeqGene	NG_027692.1:g.24148A>T
SERPINB6 RefSeqGene	NG_027692.1:g.24148A>G

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.585+26A>T	N/A	Intron Variant
SERPINB6 transcript variant 3	NM_001271822.2:c.615+26A>T	N/A	Intron Variant
SERPINB6 transcript variant 4	NM_001271823.2:c.630+26A>T	N/A	Intron Variant
SERPINB6 transcript variant 5	NM_001271824.2:c.573+26A>T	N/A	Intron Variant
SERPINB6 transcript variant 6	NM_001271825.2:c.573+26A>T	N/A	Intron Variant
SERPINB6 transcript variant 7	NM_001297699.2:c.573+26A>T	N/A	Intron Variant
SERPINB6 transcript variant 8	NM_001297700.2:c.573+26A>T	N/A	Intron Variant
SERPINB6 transcript variant 9	NM_001374515.1:c.585+26A>T	N/A	Intron Variant
SERPINB6 transcript variant 10	NM_001374516.1:c.573+26A>T	N/A	Intron Variant
SERPINB6 transcript variant 11	NM_001374517.1:c.441+26A>T	N/A	Intron Variant
SERPINB6 transcript variant 1	NM_004568.6:c.573+26A>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.807+26A>T	N/A	Intron Variant
SERPINB6 transcript variant X10	XM_017010941.2:c.441+26A>T	N/A	Intron Variant
SERPINB6 transcript variant X13	XM_024446465.2:c.441+26A>T	N/A	Intron Variant
SERPINB6 transcript variant X1	XM_047418883.1:c.807+26A>T	N/A	Intron Variant
SERPINB6 transcript variant X3	XM_047418884.1:c.807+26A>T	N/A	Intron Variant
SERPINB6 transcript variant X4	XM_047418885.1:c.807+26A>T	N/A	Intron Variant
SERPINB6 transcript variant X5	XM_047418887.1:c.807+26A>T	N/A	Intron Variant
SERPINB6 transcript variant X6	XM_047418888.1:c.807+26A>T	N/A	Intron Variant
SERPINB6 transcript variant X7	XM_047418889.1:c.585+26A>T	N/A	Intron Variant
SERPINB6 transcript variant X11	XM_047418890.1:c.585+26A>T	N/A	Intron Variant
SERPINB6 transcript variant X12	XM_047418891.1:c.573+26A>T	N/A	Intron Variant
SERPINB6 transcript variant X8	XM_047418892.1:c.573+26A>T	N/A	Intron Variant
SERPINB6 transcript variant X9	XM_047418893.1:c.441+26A>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: C (allele ID: 1233460 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001645148.2	not provided	Benign
RCV001807457.2	Autosomal recessive nonsyndromic hearing loss 91	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	T=	A	C
GRCh38.p14 chr 6	NC_000006.12:g.2953018=	NC_000006.12:g.2953018T>A	NC_000006.12:g.2953018T>C
GRCh37.p13 chr 6	NC_000006.11:g.2953252=	NC_000006.11:g.2953252T>A	NC_000006.11:g.2953252T>C
SERPINB6 RefSeqGene	NG_027692.1:g.24148=	NG_027692.1:g.24148A>T	NG_027692.1:g.24148A>G
SERPINB6 transcript variant 2	NM_001195291.2:c.585+26=	NM_001195291.2:c.585+26A>T	NM_001195291.2:c.585+26A>G
SERPINB6 transcript variant 2	NM_001195291.3:c.585+26=	NM_001195291.3:c.585+26A>T	NM_001195291.3:c.585+26A>G
SERPINB6 transcript variant 3	NM_001271822.1:c.615+26=	NM_001271822.1:c.615+26A>T	NM_001271822.1:c.615+26A>G
SERPINB6 transcript variant 3	NM_001271822.2:c.615+26=	NM_001271822.2:c.615+26A>T	NM_001271822.2:c.615+26A>G
SERPINB6 transcript variant 4	NM_001271823.1:c.630+26=	NM_001271823.1:c.630+26A>T	NM_001271823.1:c.630+26A>G
SERPINB6 transcript variant 4	NM_001271823.2:c.630+26=	NM_001271823.2:c.630+26A>T	NM_001271823.2:c.630+26A>G
SERPINB6 transcript variant 5	NM_001271824.1:c.573+26=	NM_001271824.1:c.573+26A>T	NM_001271824.1:c.573+26A>G
SERPINB6 transcript variant 5	NM_001271824.2:c.573+26=	NM_001271824.2:c.573+26A>T	NM_001271824.2:c.573+26A>G
SERPINB6 transcript variant 6	NM_001271825.1:c.573+26=	NM_001271825.1:c.573+26A>T	NM_001271825.1:c.573+26A>G
SERPINB6 transcript variant 6	NM_001271825.2:c.573+26=	NM_001271825.2:c.573+26A>T	NM_001271825.2:c.573+26A>G
SERPINB6 transcript variant 7	NM_001297699.2:c.573+26=	NM_001297699.2:c.573+26A>T	NM_001297699.2:c.573+26A>G
SERPINB6 transcript variant 8	NM_001297700.2:c.573+26=	NM_001297700.2:c.573+26A>T	NM_001297700.2:c.573+26A>G
SERPINB6 transcript variant 9	NM_001374515.1:c.585+26=	NM_001374515.1:c.585+26A>T	NM_001374515.1:c.585+26A>G
SERPINB6 transcript variant 10	NM_001374516.1:c.573+26=	NM_001374516.1:c.573+26A>T	NM_001374516.1:c.573+26A>G
SERPINB6 transcript variant 11	NM_001374517.1:c.441+26=	NM_001374517.1:c.441+26A>T	NM_001374517.1:c.441+26A>G
SERPINB6 transcript variant 1	NM_004568.5:c.573+26=	NM_004568.5:c.573+26A>T	NM_004568.5:c.573+26A>G
SERPINB6 transcript variant 1	NM_004568.6:c.573+26=	NM_004568.6:c.573+26A>T	NM_004568.6:c.573+26A>G
SERPINB6 transcript variant X1	XM_005249181.1:c.672+26=	XM_005249181.1:c.672+26A>T	XM_005249181.1:c.672+26A>G
SERPINB6 transcript variant X2	XM_005249182.1:c.573+26=	XM_005249182.1:c.573+26A>T	XM_005249182.1:c.573+26A>G
SERPINB6 transcript variant X3	XM_005249183.1:c.306+26=	XM_005249183.1:c.306+26A>T	XM_005249183.1:c.306+26A>G
SERPINB6 transcript variant X2	XM_011514672.2:c.807+26=	XM_011514672.2:c.807+26A>T	XM_011514672.2:c.807+26A>G
SERPINB6 transcript variant X10	XM_017010941.2:c.441+26=	XM_017010941.2:c.441+26A>T	XM_017010941.2:c.441+26A>G
SERPINB6 transcript variant X13	XM_024446465.2:c.441+26=	XM_024446465.2:c.441+26A>T	XM_024446465.2:c.441+26A>G
SERPINB6 transcript variant X1	XM_047418883.1:c.807+26=	XM_047418883.1:c.807+26A>T	XM_047418883.1:c.807+26A>G
SERPINB6 transcript variant X3	XM_047418884.1:c.807+26=	XM_047418884.1:c.807+26A>T	XM_047418884.1:c.807+26A>G
SERPINB6 transcript variant X4	XM_047418885.1:c.807+26=	XM_047418885.1:c.807+26A>T	XM_047418885.1:c.807+26A>G
SERPINB6 transcript variant X5	XM_047418887.1:c.807+26=	XM_047418887.1:c.807+26A>T	XM_047418887.1:c.807+26A>G
SERPINB6 transcript variant X6	XM_047418888.1:c.807+26=	XM_047418888.1:c.807+26A>T	XM_047418888.1:c.807+26A>G
SERPINB6 transcript variant X7	XM_047418889.1:c.585+26=	XM_047418889.1:c.585+26A>T	XM_047418889.1:c.585+26A>G
SERPINB6 transcript variant X11	XM_047418890.1:c.585+26=	XM_047418890.1:c.585+26A>T	XM_047418890.1:c.585+26A>G
SERPINB6 transcript variant X12	XM_047418891.1:c.573+26=	XM_047418891.1:c.573+26A>T	XM_047418891.1:c.573+26A>G
SERPINB6 transcript variant X8	XM_047418892.1:c.573+26=	XM_047418892.1:c.573+26A>T	XM_047418892.1:c.573+26A>G
SERPINB6 transcript variant X9	XM_047418893.1:c.441+26=	XM_047418893.1:c.441+26A>T	XM_047418893.1:c.441+26A>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#.

107 SubSNP, 25 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3239641	Sep 28, 2001 (100)
2	SC_JCM	ss3891182	Sep 28, 2001 (100)
3	WI_SSAHASNP	ss6863728	Feb 20, 2003 (111)
4	SC_SNP	ss13150370	Dec 05, 2003 (119)
5	CSHL-HAPMAP	ss17101074	Feb 27, 2004 (120)
6	SSAHASNP	ss22385475	Apr 05, 2004 (121)
7	ABI	ss44743596	Mar 14, 2006 (126)
8	SI_EXO	ss52074234	Oct 14, 2006 (127)
9	PERLEGEN	ss68962600	May 17, 2007 (127)
10	ILLUMINA	ss75087084	Dec 06, 2007 (129)
11	HUMANGENOME_JCVI	ss98361174	Feb 06, 2009 (130)
12	BGI	ss105975394	Feb 06, 2009 (130)
13	1000GENOMES	ss109699854	Jan 24, 2009 (130)
14	1000GENOMES	ss113803976	Jan 25, 2009 (130)
15	ILLUMINA-UK	ss116272625	Feb 14, 2009 (130)
16	KRIBB_YJKIM	ss119423973	Dec 01, 2009 (131)
17	ENSEMBL	ss143256663	Dec 01, 2009 (131)
18	GMI	ss156453469	Dec 01, 2009 (131)
19	COMPLETE_GENOMICS	ss161966071	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss166030411	Jul 04, 2010 (132)
21	ILLUMINA	ss173211312	Jul 04, 2010 (132)
22	BUSHMAN	ss201332499	Jul 04, 2010 (132)
23	BCM-HGSC-SUB	ss207668401	Jul 04, 2010 (132)
24	1000GENOMES	ss222170886	Jul 14, 2010 (132)
25	1000GENOMES	ss233296325	Jul 14, 2010 (132)
26	1000GENOMES	ss240387739	Jul 15, 2010 (132)
27	BL	ss253989397	May 09, 2011 (134)
28	GMI	ss278626740	May 04, 2012 (137)
29	PJP	ss293584962	May 09, 2011 (134)
30	1000GENOMES	ss490918602	May 04, 2012 (137)
31	CLINSEQ_SNP	ss491879931	May 04, 2012 (137)
32	ILLUMINA	ss535986745	Sep 08, 2015 (146)
33	TISHKOFF	ss558958204	Apr 25, 2013 (138)
34	SSMP	ss652870082	Apr 25, 2013 (138)
35	NHLBI-ESP	ss712688119	Apr 25, 2013 (138)
36	EVA-GONL	ss982515930	Aug 21, 2014 (142)
37	JMKIDD_LAB	ss1067474901	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1073329482	Aug 21, 2014 (142)
39	1000GENOMES	ss1318717950	Aug 21, 2014 (142)
40	DDI	ss1430616170	Apr 01, 2015 (144)
41	EVA_GENOME_DK	ss1581504464	Apr 01, 2015 (144)
42	EVA_FINRISK	ss1584043447	Apr 01, 2015 (144)
43	EVA_DECODE	ss1592061558	Apr 01, 2015 (144)
44	EVA_UK10K_ALSPAC	ss1614811399	Apr 01, 2015 (144)
45	EVA_UK10K_TWINSUK	ss1657805432	Apr 01, 2015 (144)
46	EVA_EXAC	ss1688140508	Apr 01, 2015 (144)
47	EVA_MGP	ss1711110331	Apr 01, 2015 (144)
48	EVA_SVP	ss1712829977	Apr 01, 2015 (144)
49	HAMMER_LAB	ss1804248892	Sep 08, 2015 (146)
50	WEILL_CORNELL_DGM	ss1925773197	Feb 12, 2016 (147)
51	GENOMED	ss1970294346	Jul 19, 2016 (147)
52	JJLAB	ss2023501124	Sep 14, 2016 (149)
53	USC_VALOUEV	ss2151663040	Dec 20, 2016 (150)
54	HUMAN_LONGEVITY	ss2281271845	Dec 20, 2016 (150)
55	SYSTEMSBIOZJU	ss2626238868	Nov 08, 2017 (151)
56	ILLUMINA	ss2635153054	Nov 08, 2017 (151)
57	GRF	ss2707247757	Nov 08, 2017 (151)
58	GNOMAD	ss2735511014	Nov 08, 2017 (151)
59	GNOMAD	ss2747538120	Nov 08, 2017 (151)
60	GNOMAD	ss2835087516	Nov 08, 2017 (151)
61	SWEGEN	ss2998412191	Nov 08, 2017 (151)
62	BIOINF_KMB_FNS_UNIBA	ss3025534022	Nov 08, 2017 (151)
63	CSHL	ss3346804498	Nov 08, 2017 (151)
64	ILLUMINA	ss3629428057	Oct 12, 2018 (152)
65	ILLUMINA	ss3638602955	Oct 12, 2018 (152)
66	ILLUMINA	ss3643545151	Oct 12, 2018 (152)
67	OMUKHERJEE_ADBS	ss3646330038	Oct 12, 2018 (152)
68	URBANLAB	ss3648253369	Oct 12, 2018 (152)
69	EGCUT_WGS	ss3666335240	Jul 13, 2019 (153)
70	EVA_DECODE	ss3716454971	Jul 13, 2019 (153)
71	ACPOP	ss3733145447	Jul 13, 2019 (153)
72	EVA	ss3764532015	Jul 13, 2019 (153)
73	PACBIO	ss3785353792	Jul 13, 2019 (153)
74	PACBIO	ss3790721903	Jul 13, 2019 (153)
75	PACBIO	ss3795599060	Jul 13, 2019 (153)
76	KHV_HUMAN_GENOMES	ss3807692899	Jul 13, 2019 (153)
77	EVA	ss3824151617	Apr 26, 2020 (154)
78	EVA	ss3829696556	Apr 26, 2020 (154)
79	EVA	ss3838322764	Apr 26, 2020 (154)
80	EVA	ss3843762577	Apr 26, 2020 (154)
81	SGDP_PRJ	ss3863782852	Apr 26, 2020 (154)
82	KRGDB	ss3910516360	Apr 26, 2020 (154)
83	KOGIC	ss3958375421	Apr 26, 2020 (154)
84	FSA-LAB	ss3984327500	Apr 26, 2021 (155)
85	FSA-LAB	ss3984327501	Apr 26, 2021 (155)
86	EVA	ss3986334192	Apr 26, 2021 (155)
87	EVA	ss4017251391	Apr 26, 2021 (155)
88	TOPMED	ss4691573874	Apr 26, 2021 (155)
89	TOMMO_GENOMICS	ss5175874517	Apr 26, 2021 (155)
90	1000G_HIGH_COVERAGE	ss5267175902	Oct 13, 2022 (156)
91	EVA	ss5363402537	Oct 13, 2022 (156)
92	HUGCELL_USP	ss5464990606	Oct 13, 2022 (156)
93	1000G_HIGH_COVERAGE	ss5552497063	Oct 13, 2022 (156)
94	EVA	ss5623934518	Oct 13, 2022 (156)
95	EVA	ss5624153989	Oct 13, 2022 (156)
96	SANFORD_IMAGENETICS	ss5639637764	Oct 13, 2022 (156)
97	TOMMO_GENOMICS	ss5713458371	Oct 13, 2022 (156)
98	EVA	ss5800054967	Oct 13, 2022 (156)
99	EVA	ss5800126831	Oct 13, 2022 (156)
100	YY_MCH	ss5807095221	Oct 13, 2022 (156)
101	EVA	ss5841703733	Oct 13, 2022 (156)
102	EVA	ss5848644343	Oct 13, 2022 (156)
103	EVA	ss5855173820	Oct 13, 2022 (156)
104	EVA	ss5882395728	Oct 13, 2022 (156)
105	EVA	ss5936529362	Oct 13, 2022 (156)
106	EVA	ss5968130753	Oct 13, 2022 (156)
107	EVA	ss5981232714	Oct 13, 2022 (156)
108	1000Genomes	NC_000006.11 - 2953252	Oct 12, 2018 (152)
109	1000Genomes_30x	NC_000006.12 - 2953018	Oct 13, 2022 (156)
110	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 2953252	Oct 12, 2018 (152)
111	Genetic variation in the Estonian population	NC_000006.11 - 2953252	Oct 12, 2018 (152)
112	ExAC	NC_000006.11 - 2953252	Oct 12, 2018 (152)
113	FINRISK	NC_000006.11 - 2953252	Apr 26, 2020 (154)
114	The Danish reference pan genome	NC_000006.11 - 2953252	Apr 26, 2020 (154)
115	gnomAD - Genomes	NC_000006.12 - 2953018	Apr 26, 2021 (155)
116	gnomAD - Exomes	NC_000006.11 - 2953252	Jul 13, 2019 (153)
117	GO Exome Sequencing Project	NC_000006.11 - 2953252	Oct 12, 2018 (152)
118	Genome of the Netherlands Release 5	NC_000006.11 - 2953252	Apr 26, 2020 (154)
119	HapMap	NC_000006.12 - 2953018	Apr 26, 2020 (154)
120	KOREAN population from KRGDB	NC_000006.11 - 2953252	Apr 26, 2020 (154)
121	Korean Genome Project	NC_000006.12 - 2953018	Apr 26, 2020 (154)
122	Medical Genome Project healthy controls from Spanish population	NC_000006.11 - 2953252	Apr 26, 2020 (154)
123	Northern Sweden	NC_000006.11 - 2953252	Jul 13, 2019 (153)
124	Qatari	NC_000006.11 - 2953252	Apr 26, 2020 (154)
125	SGDP_PRJ	NC_000006.11 - 2953252	Apr 26, 2020 (154)
126	Siberian	NC_000006.11 - 2953252	Apr 26, 2020 (154)
127	8.3KJPN	NC_000006.11 - 2953252	Apr 26, 2021 (155)
128	14KJPN	NC_000006.12 - 2953018	Oct 13, 2022 (156)
129	TopMed	NC_000006.12 - 2953018	Apr 26, 2021 (155)
130	UK 10K study - Twins	NC_000006.11 - 2953252	Oct 12, 2018 (152)
131	A Vietnamese Genetic Variation Database	NC_000006.11 - 2953252	Jul 13, 2019 (153)
132	ALFA	NC_000006.12 - 2953018	Apr 26, 2021 (155)
133	ClinVar	RCV001645148.2	Oct 13, 2022 (156)
134	ClinVar	RCV001807457.2	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
17693754, ss3910516360	NC_000006.11:2953251:T:A	NC_000006.12:2953017:T:A	(self)
ss109699854, ss113803976, ss116272625, ss161966071, ss166030411, ss201332499, ss207668401, ss253989397, ss278626740, ss293584962, ss491879931, ss1592061558, ss1712829977, ss2635153054, ss3643545151	NC_000006.10:2898250:T:C	NC_000006.12:2953017:T:C	(self)
30450370, 16948565, 12073488, 8157780, 39908, 7669403, 4646163, 609674, 7522881, 17693754, 226091, 6430312, 7815127, 15799832, 4179394, 33843824, 16948565, 3753714, ss222170886, ss233296325, ss240387739, ss490918602, ss535986745, ss558958204, ss652870082, ss712688119, ss982515930, ss1067474901, ss1073329482, ss1318717950, ss1430616170, ss1581504464, ss1584043447, ss1614811399, ss1657805432, ss1688140508, ss1711110331, ss1804248892, ss1925773197, ss1970294346, ss2023501124, ss2151663040, ss2626238868, ss2707247757, ss2735511014, ss2747538120, ss2835087516, ss2998412191, ss3346804498, ss3629428057, ss3638602955, ss3646330038, ss3666335240, ss3733145447, ss3764532015, ss3785353792, ss3790721903, ss3795599060, ss3824151617, ss3829696556, ss3838322764, ss3863782852, ss3910516360, ss3984327500, ss3984327501, ss3986334192, ss4017251391, ss5175874517, ss5363402537, ss5623934518, ss5624153989, ss5639637764, ss5800054967, ss5800126831, ss5841703733, ss5848644343, ss5936529362, ss5968130753, ss5981232714	NC_000006.11:2953251:T:C	NC_000006.12:2953017:T:C	(self)
RCV001645148.2, RCV001807457.2, 40022998, 215319180, 3045853, 14753422, 47295475, 528951432, 1420905234, ss2281271845, ss3025534022, ss3648253369, ss3716454971, ss3807692899, ss3843762577, ss3958375421, ss4691573874, ss5267175902, ss5464990606, ss5552497063, ss5713458371, ss5807095221, ss5855173820, ss5882395728	NC_000006.12:2953017:T:C	NC_000006.12:2953017:T:C	(self)
ss3239641, ss3891182, ss44743596, ss68962600, ss75087084, ss98361174, ss105975394, ss119423973, ss143256663, ss156453469, ss173211312	NT_007592.15:2893251:T:C	NC_000006.12:2953017:T:C	(self)
ss6863728, ss13150370	NT_034880.2:2893250:T:C	NC_000006.12:2953017:T:C	(self)
ss17101074, ss22385475, ss52074234	NT_034880.3:2893250:T:C	NC_000006.12:2953017:T: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 rs2244693

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

rs2244693