Name: rs3818276
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.

rs3818276

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:2953211 (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: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.141985 (37582/264690, TOPMED)
A=0.157605 (24725/156880, ALFA)
A=0.144499 (20259/140202, GnomAD) (+ 18 more)
A=0.05751 (1625/28258, 14KJPN)
A=0.05388 (903/16760, 8.3KJPN)
A=0.15201 (1977/13006, GO-ESP)
A=0.1043 (668/6404, 1000G_30x)
A=0.1026 (514/5008, 1000G)
A=0.1643 (736/4480, Estonian)
A=0.1713 (660/3854, ALSPAC)
A=0.1745 (647/3708, TWINSUK)
A=0.0358 (105/2930, KOREAN)
A=0.0920 (174/1892, HapMap)
A=0.177 (177/998, GoNL)
A=0.011 (7/610, Vietnamese)
A=0.148 (89/600, NorthernSweden)
A=0.085 (47/552, SGDP_PRJ)
A=0.142 (76/534, MGP)
A=0.111 (24/216, Qatari)
A=0.06 (3/54, Siberian)
A=0.30 (12/40, 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	156880	A=0.157605	G=0.842395	0.02528	0.710071	0.264648	1
European	Sub	130554	A=0.163182	G=0.836818	0.026901	0.700538	0.272562	0
African	Sub	9924	A=0.1199	G=0.8801	0.013704	0.773881	0.212414	0
African Others	Sub	334	A=0.099	G=0.901	0.005988	0.808383	0.185629	0
African American	Sub	9590	A=0.1206	G=0.8794	0.013973	0.77268	0.213347	0
Asian	Sub	688	A=0.028	G=0.972	0.0	0.944767	0.055233	0
East Asian	Sub	526	A=0.025	G=0.975	0.0	0.95057	0.04943	0
Other Asian	Sub	162	A=0.037	G=0.963	0.0	0.925926	0.074074	0
Latin American 1	Sub	752	A=0.176	G=0.824	0.039894	0.68883	0.271277	1
Latin American 2	Sub	6328	A=0.1337	G=0.8663	0.018331	0.750948	0.230721	0
South Asian	Sub	186	A=0.086	G=0.914	0.0	0.827957	0.172043	1
Other	Sub	8448	A=0.1442	G=0.8558	0.02036	0.732008	0.247633	0

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	A=0.141985	G=0.858015
Allele Frequency Aggregator	Total	Global	156880	A=0.157605	G=0.842395
Allele Frequency Aggregator	European	Sub	130554	A=0.163182	G=0.836818
Allele Frequency Aggregator	African	Sub	9924	A=0.1199	G=0.8801
Allele Frequency Aggregator	Other	Sub	8448	A=0.1442	G=0.8558
Allele Frequency Aggregator	Latin American 2	Sub	6328	A=0.1337	G=0.8663
Allele Frequency Aggregator	Latin American 1	Sub	752	A=0.176	G=0.824
Allele Frequency Aggregator	Asian	Sub	688	A=0.028	G=0.972
Allele Frequency Aggregator	South Asian	Sub	186	A=0.086	G=0.914
gnomAD - Genomes	Global	Study-wide	140202	A=0.144499	G=0.855501
gnomAD - Genomes	European	Sub	75918	A=0.16916	G=0.83084
gnomAD - Genomes	African	Sub	42030	A=0.11133	G=0.88867
gnomAD - Genomes	American	Sub	13650	A=0.14147	G=0.85853
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.1170	G=0.8830
gnomAD - Genomes	East Asian	Sub	3128	A=0.0262	G=0.9738
gnomAD - Genomes	Other	Sub	2152	A=0.1561	G=0.8439
14KJPN	JAPANESE	Study-wide	28258	A=0.05751	G=0.94249
8.3KJPN	JAPANESE	Study-wide	16760	A=0.05388	G=0.94612
GO Exome Sequencing Project	Global	Study-wide	13006	A=0.15201	G=0.84799
GO Exome Sequencing Project	European American	Sub	8600	A=0.1706	G=0.8294
GO Exome Sequencing Project	African American	Sub	4406	A=0.1158	G=0.8842
1000Genomes_30x	Global	Study-wide	6404	A=0.1043	G=0.8957
1000Genomes_30x	African	Sub	1786	A=0.1193	G=0.8807
1000Genomes_30x	Europe	Sub	1266	A=0.1532	G=0.8468
1000Genomes_30x	South Asian	Sub	1202	A=0.0674	G=0.9326
1000Genomes_30x	East Asian	Sub	1170	A=0.0325	G=0.9675
1000Genomes_30x	American	Sub	980	A=0.145	G=0.855
1000Genomes	Global	Study-wide	5008	A=0.1026	G=0.8974
1000Genomes	African	Sub	1322	A=0.1180	G=0.8820
1000Genomes	East Asian	Sub	1008	A=0.0347	G=0.9653
1000Genomes	Europe	Sub	1006	A=0.1531	G=0.8469
1000Genomes	South Asian	Sub	978	A=0.069	G=0.931
1000Genomes	American	Sub	694	A=0.147	G=0.853
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.1643	G=0.8357
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.1713	G=0.8287
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.1745	G=0.8255
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.0358	G=0.9642
HapMap	Global	Study-wide	1892	A=0.0920	G=0.9080
HapMap	American	Sub	770	A=0.081	G=0.919
HapMap	African	Sub	692	A=0.108	G=0.892
HapMap	Asian	Sub	254	A=0.047	G=0.953
HapMap	Europe	Sub	176	A=0.142	G=0.858
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.177	G=0.823
A Vietnamese Genetic Variation Database	Global	Study-wide	610	A=0.011	G=0.989
Northern Sweden	ACPOP	Study-wide	600	A=0.148	G=0.852
SGDP_PRJ	Global	Study-wide	552	A=0.085	G=0.915
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.142	G=0.858
Qatari	Global	Study-wide	216	A=0.111	G=0.889
Siberian	Global	Study-wide	54	A=0.06	G=0.94
The Danish reference pan genome	Danish	Study-wide	40	A=0.30	G=0.70

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.2953211A>G
GRCh38.p14 chr 6	NC_000006.12:g.2953211A>T
GRCh37.p13 chr 6	NC_000006.11:g.2953445A>G
GRCh37.p13 chr 6	NC_000006.11:g.2953445A>T
SERPINB6 RefSeqGene	NG_027692.1:g.23955T>C
SERPINB6 RefSeqGene	NG_027692.1:g.23955T>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.443-25T>C	N/A	Intron Variant
SERPINB6 transcript variant 3	NM_001271822.2:c.473-25T>C	N/A	Intron Variant
SERPINB6 transcript variant 4	NM_001271823.2:c.488-25T>C	N/A	Intron Variant
SERPINB6 transcript variant 5	NM_001271824.2:c.431-25T>C	N/A	Intron Variant
SERPINB6 transcript variant 6	NM_001271825.2:c.431-25T>C	N/A	Intron Variant
SERPINB6 transcript variant 7	NM_001297699.2:c.431-25T>C	N/A	Intron Variant
SERPINB6 transcript variant 8	NM_001297700.2:c.431-25T>C	N/A	Intron Variant
SERPINB6 transcript variant 9	NM_001374515.1:c.443-25T>C	N/A	Intron Variant
SERPINB6 transcript variant 10	NM_001374516.1:c.431-25T>C	N/A	Intron Variant
SERPINB6 transcript variant 11	NM_001374517.1:c.299-25T>C	N/A	Intron Variant
SERPINB6 transcript variant 1	NM_004568.6:c.431-25T>C	N/A	Intron Variant
SERPINB6 transcript variant 12	NR_164657.1:n.	N/A	Intron Variant
SERPINB6 transcript variant X2	XM_011514672.2:c.665-25T>C	N/A	Intron Variant
SERPINB6 transcript variant X10	XM_017010941.2:c.299-25T>C	N/A	Intron Variant
SERPINB6 transcript variant X13	XM_024446465.2:c.299-25T>C	N/A	Intron Variant
SERPINB6 transcript variant X1	XM_047418883.1:c.665-25T>C	N/A	Intron Variant
SERPINB6 transcript variant X3	XM_047418884.1:c.665-25T>C	N/A	Intron Variant
SERPINB6 transcript variant X4	XM_047418885.1:c.665-25T>C	N/A	Intron Variant
SERPINB6 transcript variant X5	XM_047418887.1:c.665-25T>C	N/A	Intron Variant
SERPINB6 transcript variant X6	XM_047418888.1:c.665-25T>C	N/A	Intron Variant
SERPINB6 transcript variant X7	XM_047418889.1:c.443-25T>C	N/A	Intron Variant
SERPINB6 transcript variant X11	XM_047418890.1:c.443-25T>C	N/A	Intron Variant
SERPINB6 transcript variant X12	XM_047418891.1:c.431-25T>C	N/A	Intron Variant
SERPINB6 transcript variant X8	XM_047418892.1:c.431-25T>C	N/A	Intron Variant
SERPINB6 transcript variant X9	XM_047418893.1:c.299-25T>C	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: G (allele ID: 1221300 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001609995.3	not provided	Benign
RCV001807446.2	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	A=	G	T
GRCh38.p14 chr 6	NC_000006.12:g.2953211=	NC_000006.12:g.2953211A>G	NC_000006.12:g.2953211A>T
GRCh37.p13 chr 6	NC_000006.11:g.2953445=	NC_000006.11:g.2953445A>G	NC_000006.11:g.2953445A>T
SERPINB6 RefSeqGene	NG_027692.1:g.23955=	NG_027692.1:g.23955T>C	NG_027692.1:g.23955T>A
SERPINB6 transcript variant 2	NM_001195291.2:c.443-25=	NM_001195291.2:c.443-25T>C	NM_001195291.2:c.443-25T>A
SERPINB6 transcript variant 2	NM_001195291.3:c.443-25=	NM_001195291.3:c.443-25T>C	NM_001195291.3:c.443-25T>A
SERPINB6 transcript variant 3	NM_001271822.1:c.473-25=	NM_001271822.1:c.473-25T>C	NM_001271822.1:c.473-25T>A
SERPINB6 transcript variant 3	NM_001271822.2:c.473-25=	NM_001271822.2:c.473-25T>C	NM_001271822.2:c.473-25T>A
SERPINB6 transcript variant 4	NM_001271823.1:c.488-25=	NM_001271823.1:c.488-25T>C	NM_001271823.1:c.488-25T>A
SERPINB6 transcript variant 4	NM_001271823.2:c.488-25=	NM_001271823.2:c.488-25T>C	NM_001271823.2:c.488-25T>A
SERPINB6 transcript variant 5	NM_001271824.1:c.431-25=	NM_001271824.1:c.431-25T>C	NM_001271824.1:c.431-25T>A
SERPINB6 transcript variant 5	NM_001271824.2:c.431-25=	NM_001271824.2:c.431-25T>C	NM_001271824.2:c.431-25T>A
SERPINB6 transcript variant 6	NM_001271825.1:c.431-25=	NM_001271825.1:c.431-25T>C	NM_001271825.1:c.431-25T>A
SERPINB6 transcript variant 6	NM_001271825.2:c.431-25=	NM_001271825.2:c.431-25T>C	NM_001271825.2:c.431-25T>A
SERPINB6 transcript variant 7	NM_001297699.2:c.431-25=	NM_001297699.2:c.431-25T>C	NM_001297699.2:c.431-25T>A
SERPINB6 transcript variant 8	NM_001297700.2:c.431-25=	NM_001297700.2:c.431-25T>C	NM_001297700.2:c.431-25T>A
SERPINB6 transcript variant 9	NM_001374515.1:c.443-25=	NM_001374515.1:c.443-25T>C	NM_001374515.1:c.443-25T>A
SERPINB6 transcript variant 10	NM_001374516.1:c.431-25=	NM_001374516.1:c.431-25T>C	NM_001374516.1:c.431-25T>A
SERPINB6 transcript variant 11	NM_001374517.1:c.299-25=	NM_001374517.1:c.299-25T>C	NM_001374517.1:c.299-25T>A
SERPINB6 transcript variant 1	NM_004568.5:c.431-25=	NM_004568.5:c.431-25T>C	NM_004568.5:c.431-25T>A
SERPINB6 transcript variant 1	NM_004568.6:c.431-25=	NM_004568.6:c.431-25T>C	NM_004568.6:c.431-25T>A
SERPINB6 transcript variant X1	XM_005249181.1:c.530-25=	XM_005249181.1:c.530-25T>C	XM_005249181.1:c.530-25T>A
SERPINB6 transcript variant X2	XM_005249182.1:c.431-25=	XM_005249182.1:c.431-25T>C	XM_005249182.1:c.431-25T>A
SERPINB6 transcript variant X3	XM_005249183.1:c.164-25=	XM_005249183.1:c.164-25T>C	XM_005249183.1:c.164-25T>A
SERPINB6 transcript variant X2	XM_011514672.2:c.665-25=	XM_011514672.2:c.665-25T>C	XM_011514672.2:c.665-25T>A
SERPINB6 transcript variant X10	XM_017010941.2:c.299-25=	XM_017010941.2:c.299-25T>C	XM_017010941.2:c.299-25T>A
SERPINB6 transcript variant X13	XM_024446465.2:c.299-25=	XM_024446465.2:c.299-25T>C	XM_024446465.2:c.299-25T>A
SERPINB6 transcript variant X1	XM_047418883.1:c.665-25=	XM_047418883.1:c.665-25T>C	XM_047418883.1:c.665-25T>A
SERPINB6 transcript variant X3	XM_047418884.1:c.665-25=	XM_047418884.1:c.665-25T>C	XM_047418884.1:c.665-25T>A
SERPINB6 transcript variant X4	XM_047418885.1:c.665-25=	XM_047418885.1:c.665-25T>C	XM_047418885.1:c.665-25T>A
SERPINB6 transcript variant X5	XM_047418887.1:c.665-25=	XM_047418887.1:c.665-25T>C	XM_047418887.1:c.665-25T>A
SERPINB6 transcript variant X6	XM_047418888.1:c.665-25=	XM_047418888.1:c.665-25T>C	XM_047418888.1:c.665-25T>A
SERPINB6 transcript variant X7	XM_047418889.1:c.443-25=	XM_047418889.1:c.443-25T>C	XM_047418889.1:c.443-25T>A
SERPINB6 transcript variant X11	XM_047418890.1:c.443-25=	XM_047418890.1:c.443-25T>C	XM_047418890.1:c.443-25T>A
SERPINB6 transcript variant X12	XM_047418891.1:c.431-25=	XM_047418891.1:c.431-25T>C	XM_047418891.1:c.431-25T>A
SERPINB6 transcript variant X8	XM_047418892.1:c.431-25=	XM_047418892.1:c.431-25T>C	XM_047418892.1:c.431-25T>A
SERPINB6 transcript variant X9	XM_047418893.1:c.299-25=	XM_047418893.1:c.299-25T>C	XM_047418893.1:c.299-25T>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#.

131 SubSNP, 25 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss5004691	Aug 28, 2002 (107)
2	BCM_SSAHASNP	ss10306400	Jul 11, 2003 (116)
3	SC_SNP	ss13150371	Dec 05, 2003 (119)
4	CSHL-HAPMAP	ss17098462	Feb 27, 2004 (120)
5	SSAHASNP	ss22370734	Apr 05, 2004 (121)
6	ABI	ss44763804	Mar 14, 2006 (126)
7	SI_EXO	ss52078378	Oct 13, 2006 (127)
8	PERLEGEN	ss68962601	May 16, 2007 (127)
9	ILLUMINA	ss75160759	Dec 06, 2007 (129)
10	HGSV	ss85508454	Dec 16, 2007 (130)
11	HUMANGENOME_JCVI	ss98361175	Feb 06, 2009 (130)
12	BGI	ss105975395	Feb 06, 2009 (130)
13	1000GENOMES	ss109699858	Jan 24, 2009 (130)
14	1000GENOMES	ss113803984	Jan 25, 2009 (130)
15	ILLUMINA-UK	ss116272628	Feb 14, 2009 (130)
16	KRIBB_YJKIM	ss119465639	Dec 01, 2009 (131)
17	ENSEMBL	ss144105319	Dec 01, 2009 (131)
18	GMI	ss156453478	Dec 01, 2009 (131)
19	ILLUMINA	ss160647309	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss161966077	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss163063065	Jul 04, 2010 (132)
22	ILLUMINA	ss173653587	Jul 04, 2010 (132)
23	BUSHMAN	ss201332505	Jul 04, 2010 (132)
24	BCM-HGSC-SUB	ss207355335	Jul 04, 2010 (132)
25	1000GENOMES	ss222170887	Jul 14, 2010 (132)
26	1000GENOMES	ss233296326	Jul 14, 2010 (132)
27	1000GENOMES	ss240387740	Jul 15, 2010 (132)
28	BL	ss253989401	May 09, 2011 (134)
29	GMI	ss278626741	May 04, 2012 (137)
30	PJP	ss293584963	May 09, 2011 (134)
31	ILLUMINA	ss480850681	May 04, 2012 (137)
32	ILLUMINA	ss480868312	May 04, 2012 (137)
33	ILLUMINA	ss481803942	Sep 08, 2015 (146)
34	ILLUMINA	ss485220279	May 04, 2012 (137)
35	1000GENOMES	ss490918605	May 04, 2012 (137)
36	CLINSEQ_SNP	ss491879934	May 04, 2012 (137)
37	ILLUMINA	ss537200258	Sep 08, 2015 (146)
38	TISHKOFF	ss558958205	Apr 25, 2013 (138)
39	SSMP	ss652870084	Apr 25, 2013 (138)
40	NHLBI-ESP	ss712688123	Apr 25, 2013 (138)
41	ILLUMINA	ss778525897	Aug 21, 2014 (142)
42	ILLUMINA	ss783056087	Aug 21, 2014 (142)
43	ILLUMINA	ss784014350	Aug 21, 2014 (142)
44	ILLUMINA	ss832313987	Apr 01, 2015 (144)
45	ILLUMINA	ss833982370	Aug 21, 2014 (142)
46	EVA-GONL	ss982515931	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1067474903	Aug 21, 2014 (142)
48	JMKIDD_LAB	ss1073329484	Aug 21, 2014 (142)
49	1000GENOMES	ss1318717957	Aug 21, 2014 (142)
50	DDI	ss1430616171	Apr 01, 2015 (144)
51	EVA_GENOME_DK	ss1581504465	Apr 01, 2015 (144)
52	EVA_DECODE	ss1592061559	Apr 01, 2015 (144)
53	EVA_UK10K_ALSPAC	ss1614811401	Apr 01, 2015 (144)
54	EVA_UK10K_TWINSUK	ss1657805434	Apr 01, 2015 (144)
55	EVA_EXAC	ss1688140546	Apr 01, 2015 (144)
56	EVA_EXAC	ss1688140547	Apr 01, 2015 (144)
57	EVA_MGP	ss1711110335	Apr 01, 2015 (144)
58	EVA_SVP	ss1712829979	Apr 01, 2015 (144)
59	ILLUMINA	ss1752624077	Sep 08, 2015 (146)
60	HAMMER_LAB	ss1804248893	Sep 08, 2015 (146)
61	WEILL_CORNELL_DGM	ss1925773198	Feb 12, 2016 (147)
62	GENOMED	ss1970294348	Jul 19, 2016 (147)
63	JJLAB	ss2023501125	Sep 14, 2016 (149)
64	USC_VALOUEV	ss2151663042	Dec 20, 2016 (150)
65	HUMAN_LONGEVITY	ss2281271854	Dec 20, 2016 (150)
66	SYSTEMSBIOZJU	ss2626238869	Nov 08, 2017 (151)
67	ILLUMINA	ss2634390493	Nov 08, 2017 (151)
68	GRF	ss2707247759	Nov 08, 2017 (151)
69	GNOMAD	ss2735511076	Nov 08, 2017 (151)
70	GNOMAD	ss2747538132	Nov 08, 2017 (151)
71	GNOMAD	ss2835087528	Nov 08, 2017 (151)
72	SWEGEN	ss2998412193	Nov 08, 2017 (151)
73	BIOINF_KMB_FNS_UNIBA	ss3025534023	Nov 08, 2017 (151)
74	CSHL	ss3346804499	Nov 08, 2017 (151)
75	ILLUMINA	ss3629428061	Oct 12, 2018 (152)
76	ILLUMINA	ss3632311130	Oct 12, 2018 (152)
77	ILLUMINA	ss3633403514	Oct 12, 2018 (152)
78	ILLUMINA	ss3634125402	Oct 12, 2018 (152)
79	ILLUMINA	ss3635041092	Oct 12, 2018 (152)
80	ILLUMINA	ss3635806798	Oct 12, 2018 (152)
81	ILLUMINA	ss3636755467	Oct 12, 2018 (152)
82	ILLUMINA	ss3637559509	Oct 12, 2018 (152)
83	ILLUMINA	ss3638602957	Oct 12, 2018 (152)
84	ILLUMINA	ss3640748387	Oct 12, 2018 (152)
85	ILLUMINA	ss3643545153	Oct 12, 2018 (152)
86	OMUKHERJEE_ADBS	ss3646330039	Oct 12, 2018 (152)
87	URBANLAB	ss3648253370	Oct 12, 2018 (152)
88	EGCUT_WGS	ss3666335241	Jul 13, 2019 (153)
89	EVA_DECODE	ss3716454972	Jul 13, 2019 (153)
90	ACPOP	ss3733145448	Jul 13, 2019 (153)
91	ILLUMINA	ss3745341216	Jul 13, 2019 (153)
92	EVA	ss3764532019	Jul 13, 2019 (153)
93	ILLUMINA	ss3772835045	Jul 13, 2019 (153)
94	PACBIO	ss3785353793	Jul 13, 2019 (153)
95	PACBIO	ss3790721904	Jul 13, 2019 (153)
96	PACBIO	ss3795599061	Jul 13, 2019 (153)
97	KHV_HUMAN_GENOMES	ss3807692903	Jul 13, 2019 (153)
98	EVA	ss3824151622	Apr 26, 2020 (154)
99	EVA	ss3825688717	Apr 26, 2020 (154)
100	EVA	ss3829696557	Apr 26, 2020 (154)
101	EVA	ss3838322765	Apr 26, 2020 (154)
102	EVA	ss3843762578	Apr 26, 2020 (154)
103	SGDP_PRJ	ss3863782854	Apr 26, 2020 (154)
104	KRGDB	ss3910516362	Apr 26, 2020 (154)
105	FSA-LAB	ss3984327502	Apr 26, 2021 (155)
106	FSA-LAB	ss3984327503	Apr 26, 2021 (155)
107	EVA	ss3986334194	Apr 26, 2021 (155)
108	TOPMED	ss4691573924	Apr 26, 2021 (155)
109	TOMMO_GENOMICS	ss5175874522	Apr 26, 2021 (155)
110	EVA	ss5237189004	Apr 26, 2021 (155)
111	1000G_HIGH_COVERAGE	ss5267175906	Oct 13, 2022 (156)
112	EVA	ss5315116318	Oct 13, 2022 (156)
113	EVA	ss5363402546	Oct 13, 2022 (156)
114	HUGCELL_USP	ss5464990610	Oct 13, 2022 (156)
115	EVA	ss5508328766	Oct 13, 2022 (156)
116	1000G_HIGH_COVERAGE	ss5552497070	Oct 13, 2022 (156)
117	EVA	ss5623934519	Oct 13, 2022 (156)
118	EVA	ss5624153990	Oct 13, 2022 (156)
119	SANFORD_IMAGENETICS	ss5639637766	Oct 13, 2022 (156)
120	TOMMO_GENOMICS	ss5713458377	Oct 13, 2022 (156)
121	EVA	ss5799673829	Oct 13, 2022 (156)
122	EVA	ss5800054968	Oct 13, 2022 (156)
123	EVA	ss5800126832	Oct 13, 2022 (156)
124	YY_MCH	ss5807095224	Oct 13, 2022 (156)
125	EVA	ss5841703734	Oct 13, 2022 (156)
126	EVA	ss5848644344	Oct 13, 2022 (156)
127	EVA	ss5855173822	Oct 13, 2022 (156)
128	EVA	ss5882395735	Oct 13, 2022 (156)
129	EVA	ss5936529363	Oct 13, 2022 (156)
130	EVA	ss5968130756	Oct 13, 2022 (156)
131	EVA	ss5981232715	Oct 13, 2022 (156)
132	1000Genomes	NC_000006.11 - 2953445	Oct 12, 2018 (152)
133	1000Genomes_30x	NC_000006.12 - 2953211	Oct 13, 2022 (156)
134	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 2953445	Oct 12, 2018 (152)
135	Genetic variation in the Estonian population	NC_000006.11 - 2953445	Oct 12, 2018 (152)
136	ExAC Submission ignored due to conflicting rows: Row 8157819 (NC_000006.11:2953444:A:A 16433/121358, NC_000006.11:2953444:A:G 104925/121358) Row 8157820 (NC_000006.11:2953444:A:A 121357/121358, NC_000006.11:2953444:A:T 1/121358)	-	Oct 12, 2018 (152)
137	ExAC Submission ignored due to conflicting rows: Row 8157819 (NC_000006.11:2953444:A:A 16433/121358, NC_000006.11:2953444:A:G 104925/121358) Row 8157820 (NC_000006.11:2953444:A:A 121357/121358, NC_000006.11:2953444:A:T 1/121358)	-	Oct 12, 2018 (152)
138	The Danish reference pan genome	NC_000006.11 - 2953445	Apr 26, 2020 (154)
139	gnomAD - Genomes	NC_000006.12 - 2953211	Apr 26, 2021 (155)
140	gnomAD - Exomes Submission ignored due to conflicting rows: Row 4646224 (NC_000006.11:2953444:A:A 34030/251278, NC_000006.11:2953444:A:G 217248/251278) Row 4646225 (NC_000006.11:2953444:A:A 251277/251278, NC_000006.11:2953444:A:T 1/251278)	-	Jul 13, 2019 (153)
141	gnomAD - Exomes Submission ignored due to conflicting rows: Row 4646224 (NC_000006.11:2953444:A:A 34030/251278, NC_000006.11:2953444:A:G 217248/251278) Row 4646225 (NC_000006.11:2953444:A:A 251277/251278, NC_000006.11:2953444:A:T 1/251278)	-	Jul 13, 2019 (153)
142	GO Exome Sequencing Project	NC_000006.11 - 2953445	Oct 12, 2018 (152)
143	Genome of the Netherlands Release 5	NC_000006.11 - 2953445	Apr 26, 2020 (154)
144	HapMap	NC_000006.12 - 2953211	Apr 26, 2020 (154)
145	KOREAN population from KRGDB	NC_000006.11 - 2953445	Apr 26, 2020 (154)
146	Medical Genome Project healthy controls from Spanish population	NC_000006.11 - 2953445	Apr 26, 2020 (154)
147	Northern Sweden	NC_000006.11 - 2953445	Jul 13, 2019 (153)
148	Qatari	NC_000006.11 - 2953445	Apr 26, 2020 (154)
149	SGDP_PRJ	NC_000006.11 - 2953445	Apr 26, 2020 (154)
150	Siberian	NC_000006.11 - 2953445	Apr 26, 2020 (154)
151	8.3KJPN	NC_000006.11 - 2953445	Apr 26, 2021 (155)
152	14KJPN	NC_000006.12 - 2953211	Oct 13, 2022 (156)
153	TopMed	NC_000006.12 - 2953211	Apr 26, 2021 (155)
154	UK 10K study - Twins	NC_000006.11 - 2953445	Oct 12, 2018 (152)
155	A Vietnamese Genetic Variation Database	NC_000006.11 - 2953445	Jul 13, 2019 (153)
156	ALFA	NC_000006.12 - 2953211	Apr 26, 2021 (155)
157	ClinVar	RCV001609995.3	Oct 13, 2022 (156)
158	ClinVar	RCV001807446.2	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).

Associated ID	History Updated (Build)
rs61219226	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss85508454	NC_000006.9:2898443:A:G	NC_000006.12:2953210:A:G	(self)
ss109699858, ss113803984, ss116272628, ss160647309, ss161966077, ss163063065, ss201332505, ss207355335, ss253989401, ss278626741, ss293584963, ss480850681, ss491879934, ss1592061559, ss1712829979, ss3643545153	NC_000006.10:2898443:A:G	NC_000006.12:2953210:A:G	(self)
30450377, 16948567, 12073489, 7669404, 609679, 7522882, 17693756, 226095, 6430313, 7815128, 15799834, 4179396, 33843829, 16948567, 3753717, ss222170887, ss233296326, ss240387740, ss480868312, ss481803942, ss485220279, ss490918605, ss537200258, ss558958205, ss652870084, ss712688123, ss778525897, ss783056087, ss784014350, ss832313987, ss833982370, ss982515931, ss1067474903, ss1073329484, ss1318717957, ss1430616171, ss1581504465, ss1614811401, ss1657805434, ss1688140546, ss1711110335, ss1752624077, ss1804248893, ss1925773198, ss1970294348, ss2023501125, ss2151663042, ss2626238869, ss2634390493, ss2707247759, ss2735511076, ss2747538132, ss2835087528, ss2998412193, ss3346804499, ss3629428061, ss3632311130, ss3633403514, ss3634125402, ss3635041092, ss3635806798, ss3636755467, ss3637559509, ss3638602957, ss3640748387, ss3646330039, ss3666335241, ss3733145448, ss3745341216, ss3764532019, ss3772835045, ss3785353793, ss3790721904, ss3795599061, ss3824151622, ss3825688717, ss3829696557, ss3838322765, ss3863782854, ss3910516362, ss3984327502, ss3984327503, ss3986334194, ss5175874522, ss5315116318, ss5363402546, ss5508328766, ss5623934519, ss5624153990, ss5639637766, ss5799673829, ss5800054968, ss5800126832, ss5841703734, ss5848644344, ss5936529363, ss5968130756, ss5981232715	NC_000006.11:2953444:A:G	NC_000006.12:2953210:A:G	(self)
RCV001609995.3, RCV001807446.2, 40023005, 215319218, 3045855, 47295481, 528951482, 7711575068, ss2281271854, ss3025534023, ss3648253370, ss3716454972, ss3807692903, ss3843762578, ss4691573924, ss5237189004, ss5267175906, ss5464990610, ss5552497070, ss5713458377, ss5807095224, ss5855173822, ss5882395735	NC_000006.12:2953210:A:G	NC_000006.12:2953210:A:G	(self)
ss5004691, ss44763804, ss68962601, ss75160759, ss98361175, ss105975395, ss119465639, ss144105319, ss156453478, ss173653587	NT_007592.15:2893444:A:G	NC_000006.12:2953210:A:G	(self)
ss10306400, ss13150371	NT_034880.2:2893443:A:G	NC_000006.12:2953210:A:G	(self)
ss17098462, ss22370734, ss52078378	NT_034880.3:2893443:A:G	NC_000006.12:2953210:A:G	(self)
ss1688140547, ss2735511076	NC_000006.11:2953444:A:T	NC_000006.12:2953210:A: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 rs3818276

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
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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

rs3818276