Name: rs3799196
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.

rs3799196

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:2968811 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.014874 (3937/264690, TOPMED)
C=0.014580 (2045/140258, GnomAD)
C=0.01527 (505/33074, ALFA) (+ 18 more)
C=0.00280 (79/28258, 14KJPN)
C=0.00340 (57/16760, 8.3KJPN)
C=0.0225 (144/6404, 1000G_30x)
C=0.0216 (108/5008, 1000G)
C=0.0179 (80/4480, Estonian)
C=0.0174 (67/3854, ALSPAC)
C=0.0135 (50/3708, TWINSUK)
C=0.0065 (19/2922, KOREAN)
C=0.0060 (11/1832, Korea1K)
C=0.0202 (23/1138, HapMap)
C=0.0177 (20/1130, Daghestan)
C=0.020 (20/998, GoNL)
C=0.012 (7/600, NorthernSweden)
C=0.005 (1/216, Qatari)
T=0.50 (15/30, SGDP_PRJ)
C=0.50 (15/30, SGDP_PRJ)
T=0.5 (1/2, Siberian)
C=0.5 (1/2, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SERPINB6 : Initiator Codon 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	33074	T=0.98473	C=0.01527	0.969704	0.000242	0.030054	0
European	Sub	26358	T=0.98456	C=0.01544	0.969118	0.0	0.030882	2
African	Sub	4286	T=0.9960	C=0.0040	0.992067	0.0	0.007933	0
African Others	Sub	158	T=1.000	C=0.000	1.0	0.0	0.0	N/A
African American	Sub	4128	T=0.9959	C=0.0041	0.991764	0.0	0.008236	0
Asian	Sub	134	T=1.000	C=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	108	T=1.000	C=0.000	1.0	0.0	0.0	N/A
Other Asian	Sub	26	T=1.00	C=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	178	T=0.972	C=0.028	0.955056	0.011236	0.033708	8
Latin American 2	Sub	738	T=0.944	C=0.056	0.894309	0.00542	0.100271	0
South Asian	Sub	116	T=0.914	C=0.086	0.844828	0.017241	0.137931	1
Other	Sub	1264	T=0.9802	C=0.0198	0.960443	0.0	0.039557	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	T=0.985126	C=0.014874
gnomAD - Genomes	Global	Study-wide	140258	T=0.985420	C=0.014580
gnomAD - Genomes	European	Sub	75942	T=0.98287	C=0.01713
gnomAD - Genomes	African	Sub	42046	T=0.99586	C=0.00414
gnomAD - Genomes	American	Sub	13662	T=0.96377	C=0.03623
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.9883	C=0.0117
gnomAD - Genomes	East Asian	Sub	3132	T=0.9971	C=0.0029
gnomAD - Genomes	Other	Sub	2154	T=0.9875	C=0.0125
Allele Frequency Aggregator	Total	Global	33074	T=0.98473	C=0.01527
Allele Frequency Aggregator	European	Sub	26358	T=0.98456	C=0.01544
Allele Frequency Aggregator	African	Sub	4286	T=0.9960	C=0.0040
Allele Frequency Aggregator	Other	Sub	1264	T=0.9802	C=0.0198
Allele Frequency Aggregator	Latin American 2	Sub	738	T=0.944	C=0.056
Allele Frequency Aggregator	Latin American 1	Sub	178	T=0.972	C=0.028
Allele Frequency Aggregator	Asian	Sub	134	T=1.000	C=0.000
Allele Frequency Aggregator	South Asian	Sub	116	T=0.914	C=0.086
14KJPN	JAPANESE	Study-wide	28258	T=0.99720	C=0.00280
8.3KJPN	JAPANESE	Study-wide	16760	T=0.99660	C=0.00340
1000Genomes_30x	Global	Study-wide	6404	T=0.9775	C=0.0225
1000Genomes_30x	African	Sub	1786	T=0.9994	C=0.0006
1000Genomes_30x	Europe	Sub	1266	T=0.9866	C=0.0134
1000Genomes_30x	South Asian	Sub	1202	T=0.9260	C=0.0740
1000Genomes_30x	East Asian	Sub	1170	T=0.9991	C=0.0009
1000Genomes_30x	American	Sub	980	T=0.963	C=0.037
1000Genomes	Global	Study-wide	5008	T=0.9784	C=0.0216
1000Genomes	African	Sub	1322	T=0.9992	C=0.0008
1000Genomes	East Asian	Sub	1008	T=0.9990	C=0.0010
1000Genomes	Europe	Sub	1006	T=0.9861	C=0.0139
1000Genomes	South Asian	Sub	978	T=0.930	C=0.070
1000Genomes	American	Sub	694	T=0.965	C=0.035
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9821	C=0.0179
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9826	C=0.0174
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9865	C=0.0135
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.9935	C=0.0065
Korean Genome Project	KOREAN	Study-wide	1832	T=0.9940	C=0.0060
HapMap	Global	Study-wide	1138	T=0.9798	C=0.0202
HapMap	American	Sub	672	T=0.967	C=0.033
HapMap	Europe	Sub	176	T=0.994	C=0.006
HapMap	Asian	Sub	170	T=1.000	C=0.000
HapMap	African	Sub	120	T=1.000	C=0.000
Genome-wide autozygosity in Daghestan	Global	Study-wide	1130	T=0.9823	C=0.0177
Genome-wide autozygosity in Daghestan	Daghestan	Sub	624	T=0.987	C=0.013
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.979	C=0.021
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.984	C=0.016
Genome-wide autozygosity in Daghestan	Europe	Sub	106	T=1.000	C=0.000
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.93	C=0.07
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=1.00	C=0.00
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.980	C=0.020
Northern Sweden	ACPOP	Study-wide	600	T=0.988	C=0.012
Qatari	Global	Study-wide	216	T=0.995	C=0.005
SGDP_PRJ	Global	Study-wide	30	T=0.50	C=0.50
Siberian	Global	Study-wide	2	T=0.5	C=0.5

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.2968811T>C
GRCh37.p13 chr 6	NC_000006.11:g.2969045T>C
SERPINB6 RefSeqGene	NG_027692.1:g.8355A>G

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

Molecule type	Change	Amino acid[Codon]	SO Term
SERPINB6 transcript variant 11	NM_001374517.1:c.1A>G	M [ATG] > V [GTG]	Initiator Codon Variant
serpin B6 isoform e	NP_001361446.1:p.Met1Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant 3	NM_001271822.2:c.32+2306A… NM_001271822.2:c.32+2306A>G	N/A	Intron Variant
SERPINB6 transcript variant 4	NM_001271823.2:c.47+1947A… NM_001271823.2:c.47+1947A>G	N/A	Intron Variant
SERPINB6 transcript variant 5	NM_001271824.2:c.-11+2680… NM_001271824.2:c.-11+2680A>G	N/A	Intron Variant
SERPINB6 transcript variant 7	NM_001297699.2:c.-11+2437… NM_001297699.2:c.-11+2437A>G	N/A	Intron Variant
SERPINB6 transcript variant 8	NM_001297700.2:c.-11+2781… NM_001297700.2:c.-11+2781A>G	N/A	Intron Variant
SERPINB6 transcript variant 10	NM_001374516.1:c.-11+1885… NM_001374516.1:c.-11+1885A>G	N/A	Intron Variant
SERPINB6 transcript variant 1	NM_004568.6:c.-11+2722A>G	N/A	Intron Variant
SERPINB6 transcript variant 9	NM_001374515.1:c.-31=	N/A	5 Prime UTR Variant
SERPINB6 transcript variant 2	NM_001195291.3:c.-31=	N/A	5 Prime UTR Variant
SERPINB6 transcript variant 6	NM_001271825.2:c.	N/A	Genic Upstream Transcript Variant
SERPINB6 transcript variant 12	NR_164657.1:n.	N/A	Intron Variant
SERPINB6 transcript variant X1	XM_047418883.1:c.1A>G	M [ATG] > V [GTG]	Initiator Codon Variant
serpin B6 isoform X1	XP_047274839.1:p.Met1Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X2	XM_011514672.2:c.1A>G	M [ATG] > V [GTG]	Initiator Codon Variant
serpin B6 isoform X1	XP_011512974.1:p.Met1Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X3	XM_047418884.1:c.1A>G	M [ATG] > V [GTG]	Initiator Codon Variant
serpin B6 isoform X1	XP_047274840.1:p.Met1Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X4	XM_047418885.1:c.1A>G	M [ATG] > V [GTG]	Initiator Codon Variant
serpin B6 isoform X1	XP_047274841.1:p.Met1Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X5	XM_047418887.1:c.1A>G	M [ATG] > V [GTG]	Initiator Codon Variant
serpin B6 isoform X1	XP_047274843.1:p.Met1Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X6	XM_047418888.1:c.1A>G	M [ATG] > V [GTG]	Initiator Codon Variant
serpin B6 isoform X1	XP_047274844.1:p.Met1Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X10	XM_017010941.2:c.1A>G	M [ATG] > V [GTG]	Initiator Codon Variant
serpin B6 isoform X4	XP_016866430.1:p.Met1Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X9	XM_047418893.1:c.1A>G	M [ATG] > V [GTG]	Initiator Codon Variant
serpin B6 isoform X4	XP_047274849.1:p.Met1Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X13	XM_024446465.2:c.1A>G	M [ATG] > V [GTG]	Initiator Codon Variant
serpin B6 isoform X4	XP_024302233.1:p.Met1Val	M (Met) > V (Val)	Missense Variant
SERPINB6 transcript variant X7	XM_047418889.1:c.-31=	N/A	5 Prime UTR Variant
SERPINB6 transcript variant X11	XM_047418890.1:c.-11=	N/A	5 Prime UTR Variant
SERPINB6 transcript variant X12	XM_047418891.1:c.	N/A	Genic Upstream Transcript Variant
SERPINB6 transcript variant X8	XM_047418892.1:c.	N/A	Genic Upstream Transcript 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: 661667 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000843313.1	not provided	Likely-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=	C
GRCh38.p14 chr 6	NC_000006.12:g.2968811=	NC_000006.12:g.2968811T>C
GRCh37.p13 chr 6	NC_000006.11:g.2969045=	NC_000006.11:g.2969045T>C
SERPINB6 RefSeqGene	NG_027692.1:g.8355=	NG_027692.1:g.8355A>G
SERPINB6 transcript variant 2	NM_001195291.3:c.-31=	NM_001195291.3:c.-31A>G
SERPINB6 transcript variant 2	NM_001195291.2:c.-31=	NM_001195291.2:c.-31A>G
SERPINB6 transcript variant 9	NM_001374515.1:c.-31=	NM_001374515.1:c.-31A>G
SERPINB6 transcript variant 11	NM_001374517.1:c.1=	NM_001374517.1:c.1A>G
SERPINB6 transcript variant X10	XM_017010941.2:c.1=	XM_017010941.2:c.1A>G
SERPINB6 transcript variant X7	XM_017010941.1:c.1=	XM_017010941.1:c.1A>G
SERPINB6 transcript variant X2	XM_011514672.2:c.1=	XM_011514672.2:c.1A>G
SERPINB6 transcript variant X1	XM_011514672.1:c.1=	XM_011514672.1:c.1A>G
SERPINB6 transcript variant X13	XM_024446465.2:c.1=	XM_024446465.2:c.1A>G
SERPINB6 transcript variant X9	XM_024446465.1:c.1=	XM_024446465.1:c.1A>G
SERPINB6 transcript variant X1	XM_047418883.1:c.1=	XM_047418883.1:c.1A>G
SERPINB6 transcript variant X7	XM_047418889.1:c.-31=	XM_047418889.1:c.-31A>G
SERPINB6 transcript variant X11	XM_047418890.1:c.-11=	XM_047418890.1:c.-11A>G
SERPINB6 transcript variant X3	XM_047418884.1:c.1=	XM_047418884.1:c.1A>G
SERPINB6 transcript variant X5	XM_047418887.1:c.1=	XM_047418887.1:c.1A>G
SERPINB6 transcript variant X4	XM_047418885.1:c.1=	XM_047418885.1:c.1A>G
SERPINB6 transcript variant X6	XM_047418888.1:c.1=	XM_047418888.1:c.1A>G
SERPINB6 transcript variant X9	XM_047418893.1:c.1=	XM_047418893.1:c.1A>G
serpin B6 isoform e	NP_001361446.1:p.Met1=	NP_001361446.1:p.Met1Val
serpin B6 isoform X4	XP_016866430.1:p.Met1=	XP_016866430.1:p.Met1Val
serpin B6 isoform X1	XP_011512974.1:p.Met1=	XP_011512974.1:p.Met1Val
serpin B6 isoform X4	XP_024302233.1:p.Met1=	XP_024302233.1:p.Met1Val
serpin B6 isoform X1	XP_047274839.1:p.Met1=	XP_047274839.1:p.Met1Val
serpin B6 isoform X1	XP_047274840.1:p.Met1=	XP_047274840.1:p.Met1Val
serpin B6 isoform X1	XP_047274843.1:p.Met1=	XP_047274843.1:p.Met1Val
serpin B6 isoform X1	XP_047274841.1:p.Met1=	XP_047274841.1:p.Met1Val
serpin B6 isoform X1	XP_047274844.1:p.Met1=	XP_047274844.1:p.Met1Val
serpin B6 isoform X4	XP_047274849.1:p.Met1=	XP_047274849.1:p.Met1Val
SERPINB6 transcript variant 3	NM_001271822.1:c.32+2306=	NM_001271822.1:c.32+2306A>G
SERPINB6 transcript variant 3	NM_001271822.2:c.32+2306=	NM_001271822.2:c.32+2306A>G
SERPINB6 transcript variant 4	NM_001271823.1:c.47+1947=	NM_001271823.1:c.47+1947A>G
SERPINB6 transcript variant 4	NM_001271823.2:c.47+1947=	NM_001271823.2:c.47+1947A>G
SERPINB6 transcript variant 5	NM_001271824.1:c.-11+2680=	NM_001271824.1:c.-11+2680A>G
SERPINB6 transcript variant 5	NM_001271824.2:c.-11+2680=	NM_001271824.2:c.-11+2680A>G
SERPINB6 transcript variant 7	NM_001297699.2:c.-11+2437=	NM_001297699.2:c.-11+2437A>G
SERPINB6 transcript variant 8	NM_001297700.2:c.-11+2781=	NM_001297700.2:c.-11+2781A>G
SERPINB6 transcript variant 10	NM_001374516.1:c.-11+1885=	NM_001374516.1:c.-11+1885A>G
SERPINB6 transcript variant 1	NM_004568.5:c.-11+2722=	NM_004568.5:c.-11+2722A>G
SERPINB6 transcript variant 1	NM_004568.6:c.-11+2722=	NM_004568.6:c.-11+2722A>G
SERPINB6 transcript variant X2	XM_005249182.1:c.-11+2437=	XM_005249182.1:c.-11+2437A>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#.

54 SubSNP, 19 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss4985578	Aug 28, 2002 (107)
2	ILLUMINA	ss75151319	Dec 06, 2007 (129)
3	KRIBB_YJKIM	ss119463590	Dec 01, 2009 (131)
4	ILLUMINA	ss173644040	Jul 04, 2010 (132)
5	1000GENOMES	ss233296385	Jul 14, 2010 (132)
6	ILLUMINA	ss483028372	May 04, 2012 (137)
7	ILLUMINA	ss485224537	May 04, 2012 (137)
8	ILLUMINA	ss535049563	Sep 08, 2015 (146)
9	SSMP	ss652870170	Apr 25, 2013 (138)
10	ILLUMINA	ss780124422	Aug 21, 2014 (142)
11	ILLUMINA	ss781957758	Aug 21, 2014 (142)
12	ILLUMINA	ss835607455	Aug 21, 2014 (142)
13	EVA-GONL	ss982516078	Aug 21, 2014 (142)
14	JMKIDD_LAB	ss1073329584	Aug 21, 2014 (142)
15	1000GENOMES	ss1318718422	Aug 21, 2014 (142)
16	HAMMER_LAB	ss1397438703	Sep 08, 2015 (146)
17	EVA_DECODE	ss1592061683	Apr 01, 2015 (144)
18	EVA_UK10K_ALSPAC	ss1614811647	Apr 01, 2015 (144)
19	EVA_UK10K_TWINSUK	ss1657805680	Apr 01, 2015 (144)
20	EVA_SVP	ss1712829998	Apr 01, 2015 (144)
21	WEILL_CORNELL_DGM	ss1925773327	Feb 12, 2016 (147)
22	JJLAB	ss2023501197	Sep 14, 2016 (149)
23	USC_VALOUEV	ss2151663124	Dec 20, 2016 (150)
24	HUMAN_LONGEVITY	ss2281272802	Dec 20, 2016 (150)
25	ILLUMINA	ss2634390514	Nov 08, 2017 (151)
26	GRF	ss2707247838	Nov 08, 2017 (151)
27	GNOMAD	ss2835088740	Nov 08, 2017 (151)
28	SWEGEN	ss2998412368	Nov 08, 2017 (151)
29	CSHL	ss3346804568	Nov 08, 2017 (151)
30	ILLUMINA	ss3629428100	Oct 12, 2018 (152)
31	ILLUMINA	ss3632311149	Oct 12, 2018 (152)
32	ILLUMINA	ss3638602967	Oct 12, 2018 (152)
33	ILLUMINA	ss3642469035	Oct 12, 2018 (152)
34	ILLUMINA	ss3643545164	Oct 12, 2018 (152)
35	EGCUT_WGS	ss3666335446	Jul 13, 2019 (153)
36	EVA_DECODE	ss3716455168	Jul 13, 2019 (153)
37	ACPOP	ss3733145558	Jul 13, 2019 (153)
38	EVA	ss3764532171	Jul 13, 2019 (153)
39	KHV_HUMAN_GENOMES	ss3807693051	Jul 13, 2019 (153)
40	SGDP_PRJ	ss3863783077	Apr 26, 2020 (154)
41	KRGDB	ss3910516613	Apr 26, 2020 (154)
42	KOGIC	ss3958375690	Apr 26, 2020 (154)
43	EVA	ss4017251403	Apr 26, 2021 (155)
44	TOPMED	ss4691577550	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5175875020	Apr 26, 2021 (155)
46	1000G_HIGH_COVERAGE	ss5267176288	Oct 13, 2022 (156)
47	EVA	ss5363403253	Oct 13, 2022 (156)
48	HUGCELL_USP	ss5464990955	Oct 13, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5552497644	Oct 13, 2022 (156)
50	SANFORD_IMAGENETICS	ss5639637984	Oct 13, 2022 (156)
51	TOMMO_GENOMICS	ss5713459006	Oct 13, 2022 (156)
52	EVA	ss5841703893	Oct 13, 2022 (156)
53	EVA	ss5882396216	Oct 13, 2022 (156)
54	EVA	ss5968130986	Oct 13, 2022 (156)
55	1000Genomes	NC_000006.11 - 2969045	Oct 12, 2018 (152)
56	1000Genomes_30x	NC_000006.12 - 2968811	Oct 13, 2022 (156)
57	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 2969045	Oct 12, 2018 (152)
58	Genome-wide autozygosity in Daghestan	NC_000006.10 - 2914044	Apr 26, 2020 (154)
59	Genetic variation in the Estonian population	NC_000006.11 - 2969045	Oct 12, 2018 (152)
60	gnomAD - Genomes	NC_000006.12 - 2968811	Apr 26, 2021 (155)
61	Genome of the Netherlands Release 5	NC_000006.11 - 2969045	Apr 26, 2020 (154)
62	HapMap	NC_000006.12 - 2968811	Apr 26, 2020 (154)
63	KOREAN population from KRGDB	NC_000006.11 - 2969045	Apr 26, 2020 (154)
64	Korean Genome Project	NC_000006.12 - 2968811	Apr 26, 2020 (154)
65	Northern Sweden	NC_000006.11 - 2969045	Jul 13, 2019 (153)
66	Qatari	NC_000006.11 - 2969045	Apr 26, 2020 (154)
67	SGDP_PRJ	NC_000006.11 - 2969045	Apr 26, 2020 (154)
68	Siberian	NC_000006.11 - 2969045	Apr 26, 2020 (154)
69	8.3KJPN	NC_000006.11 - 2969045	Apr 26, 2021 (155)
70	14KJPN	NC_000006.12 - 2968811	Oct 13, 2022 (156)
71	TopMed	NC_000006.12 - 2968811	Apr 26, 2021 (155)
72	UK 10K study - Twins	NC_000006.11 - 2969045	Oct 12, 2018 (152)
73	ALFA	NC_000006.12 - 2968811	Apr 26, 2021 (155)
74	ClinVar	RCV000843313.1	Apr 26, 2020 (154)

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
413443, ss485224537, ss1397438703, ss1592061683, ss1712829998, ss3643545164	NC_000006.10:2914043:T:C	NC_000006.12:2968810:T:C	(self)
30450862, 16948838, 12073694, 7523029, 17694007, 6430423, 7815257, 15800057, 4179478, 33844327, 16948838, ss233296385, ss483028372, ss535049563, ss652870170, ss780124422, ss781957758, ss835607455, ss982516078, ss1073329584, ss1318718422, ss1614811647, ss1657805680, ss1925773327, ss2023501197, ss2151663124, ss2634390514, ss2707247838, ss2835088740, ss2998412368, ss3346804568, ss3629428100, ss3632311149, ss3638602967, ss3642469035, ss3666335446, ss3733145558, ss3764532171, ss3863783077, ss3910516613, ss4017251403, ss5175875020, ss5363403253, ss5639637984, ss5841703893, ss5968130986	NC_000006.11:2969044:T:C	NC_000006.12:2968810:T:C	(self)
RCV000843313.1, 40023579, 215322196, 3045887, 14753691, 47296110, 528955108, 272069609, ss2281272802, ss3716455168, ss3807693051, ss3958375690, ss4691577550, ss5267176288, ss5464990955, ss5552497644, ss5713459006, ss5882396216	NC_000006.12:2968810:T:C	NC_000006.12:2968810:T:C	(self)
ss4985578, ss75151319, ss119463590, ss173644040	NT_007592.15:2909044:T:C	NC_000006.12:2968810: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 rs3799196

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

rs3799196