Name: rs2295768
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.

rs2295768

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:2954368 (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=0.237942 (62981/264690, TOPMED)
T=0.25632 (7243/28258, 14KJPN)
T=0.19457 (3598/18492, ALFA) (+ 18 more)
T=0.25674 (4303/16760, 8.3KJPN)
T=0.2188 (1401/6404, 1000G_30x)
T=0.2212 (1108/5008, 1000G)
T=0.3420 (1532/4480, Estonian)
T=0.3365 (1297/3854, ALSPAC)
T=0.3506 (1300/3708, TWINSUK)
T=0.3017 (884/2930, KOREAN)
T=0.2010 (373/1856, HapMap)
T=0.2975 (545/1832, Korea1K)
T=0.328 (327/998, GoNL)
T=0.312 (195/626, Chileans)
T=0.350 (210/600, NorthernSweden)
T=0.403 (87/216, Qatari)
C=0.375 (81/216, SGDP_PRJ)
T=0.229 (49/214, Vietnamese)
T=0.22 (18/82, Ancient Sardinia)
C=0.36 (15/42, Siberian)
T=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	18492	C=0.80543	A=0.00000, T=0.19457	0.672399	0.06154	0.266061	32
European	Sub	11374	C=0.75840	A=0.00000, T=0.24160	0.598558	0.081765	0.319676	32
African	Sub	3156	C=0.9848	A=0.0000, T=0.0152	0.971483	0.001901	0.026616	11
African Others	Sub	114	C=0.982	A=0.000, T=0.018	0.964912	0.0	0.035088	0
African American	Sub	3042	C=0.9849	A=0.0000, T=0.0151	0.971729	0.001972	0.026298	12
Asian	Sub	116	C=0.871	A=0.000, T=0.129	0.810345	0.068966	0.12069	7
East Asian	Sub	60	C=0.90	A=0.00, T=0.10	0.866667	0.066667	0.066667	7
Other Asian	Sub	56	C=0.84	A=0.00, T=0.16	0.75	0.071429	0.178571	2
Latin American 1	Sub	230	C=0.830	A=0.000, T=0.170	0.686957	0.026087	0.286957	0
Latin American 2	Sub	2444	C=0.7934	A=0.0000, T=0.2066	0.630933	0.04419	0.324877	0
South Asian	Sub	52	C=0.92	A=0.00, T=0.08	0.884615	0.038462	0.076923	3
Other	Sub	1120	C=0.7866	A=0.0000, T=0.2134	0.642857	0.069643	0.2875	7

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=0.762058	T=0.237942
14KJPN	JAPANESE	Study-wide	28258	C=0.74368	T=0.25632
Allele Frequency Aggregator	Total	Global	18492	C=0.80543	A=0.00000, T=0.19457
Allele Frequency Aggregator	European	Sub	11374	C=0.75840	A=0.00000, T=0.24160
Allele Frequency Aggregator	African	Sub	3156	C=0.9848	A=0.0000, T=0.0152
Allele Frequency Aggregator	Latin American 2	Sub	2444	C=0.7934	A=0.0000, T=0.2066
Allele Frequency Aggregator	Other	Sub	1120	C=0.7866	A=0.0000, T=0.2134
Allele Frequency Aggregator	Latin American 1	Sub	230	C=0.830	A=0.000, T=0.170
Allele Frequency Aggregator	Asian	Sub	116	C=0.871	A=0.000, T=0.129
Allele Frequency Aggregator	South Asian	Sub	52	C=0.92	A=0.00, T=0.08
8.3KJPN	JAPANESE	Study-wide	16760	C=0.74326	T=0.25674
1000Genomes_30x	Global	Study-wide	6404	C=0.7812	T=0.2188
1000Genomes_30x	African	Sub	1786	C=0.9681	T=0.0319
1000Genomes_30x	Europe	Sub	1266	C=0.6682	T=0.3318
1000Genomes_30x	South Asian	Sub	1202	C=0.7005	T=0.2995
1000Genomes_30x	East Asian	Sub	1170	C=0.7222	T=0.2778
1000Genomes_30x	American	Sub	980	C=0.756	T=0.244
1000Genomes	Global	Study-wide	5008	C=0.7788	T=0.2212
1000Genomes	African	Sub	1322	C=0.9690	T=0.0310
1000Genomes	East Asian	Sub	1008	C=0.7262	T=0.2738
1000Genomes	Europe	Sub	1006	C=0.6750	T=0.3250
1000Genomes	South Asian	Sub	978	C=0.704	T=0.296
1000Genomes	American	Sub	694	C=0.748	T=0.252
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6580	T=0.3420
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6635	T=0.3365
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6494	T=0.3506
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.6983	T=0.3017
HapMap	Global	Study-wide	1856	C=0.7990	T=0.2010
HapMap	American	Sub	760	C=0.734	T=0.266
HapMap	African	Sub	670	C=0.945	T=0.055
HapMap	Asian	Sub	250	C=0.724	T=0.276
HapMap	Europe	Sub	176	C=0.631	T=0.369
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7025	T=0.2975
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.672	T=0.328
Chileans	Chilean	Study-wide	626	C=0.688	T=0.312
Northern Sweden	ACPOP	Study-wide	600	C=0.650	T=0.350
Qatari	Global	Study-wide	216	C=0.597	T=0.403
SGDP_PRJ	Global	Study-wide	216	C=0.375	T=0.625
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.771	T=0.229
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	82	C=0.78	T=0.22
Siberian	Global	Study-wide	42	C=0.36	T=0.64
The Danish reference pan genome	Danish	Study-wide	40	C=0.70	T=0.30

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.2954368C>A
GRCh38.p14 chr 6	NC_000006.12:g.2954368C>T
GRCh37.p13 chr 6	NC_000006.11:g.2954602C>A
GRCh37.p13 chr 6	NC_000006.11:g.2954602C>T
SERPINB6 RefSeqGene	NG_027692.1:g.22798G>T
SERPINB6 RefSeqGene	NG_027692.1:g.22798G>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+224G… NM_001195291.3:c.442+224G>T	N/A	Intron Variant
SERPINB6 transcript variant 3	NM_001271822.2:c.472+224G… NM_001271822.2:c.472+224G>T	N/A	Intron Variant
SERPINB6 transcript variant 4	NM_001271823.2:c.487+224G… NM_001271823.2:c.487+224G>T	N/A	Intron Variant
SERPINB6 transcript variant 5	NM_001271824.2:c.430+224G… NM_001271824.2:c.430+224G>T	N/A	Intron Variant
SERPINB6 transcript variant 6	NM_001271825.2:c.430+224G… NM_001271825.2:c.430+224G>T	N/A	Intron Variant
SERPINB6 transcript variant 7	NM_001297699.2:c.430+224G… NM_001297699.2:c.430+224G>T	N/A	Intron Variant
SERPINB6 transcript variant 8	NM_001297700.2:c.430+224G… NM_001297700.2:c.430+224G>T	N/A	Intron Variant
SERPINB6 transcript variant 9	NM_001374515.1:c.442+224G… NM_001374515.1:c.442+224G>T	N/A	Intron Variant
SERPINB6 transcript variant 10	NM_001374516.1:c.430+224G… NM_001374516.1:c.430+224G>T	N/A	Intron Variant
SERPINB6 transcript variant 11	NM_001374517.1:c.298+224G… NM_001374517.1:c.298+224G>T	N/A	Intron Variant
SERPINB6 transcript variant 1	NM_004568.6:c.430+224G>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+224G… XM_011514672.2:c.664+224G>T	N/A	Intron Variant
SERPINB6 transcript variant X10	XM_017010941.2:c.298+224G… XM_017010941.2:c.298+224G>T	N/A	Intron Variant
SERPINB6 transcript variant X13	XM_024446465.2:c.298+224G… XM_024446465.2:c.298+224G>T	N/A	Intron Variant
SERPINB6 transcript variant X1	XM_047418883.1:c.664+224G… XM_047418883.1:c.664+224G>T	N/A	Intron Variant
SERPINB6 transcript variant X3	XM_047418884.1:c.664+224G… XM_047418884.1:c.664+224G>T	N/A	Intron Variant
SERPINB6 transcript variant X4	XM_047418885.1:c.664+224G… XM_047418885.1:c.664+224G>T	N/A	Intron Variant
SERPINB6 transcript variant X5	XM_047418887.1:c.664+224G… XM_047418887.1:c.664+224G>T	N/A	Intron Variant
SERPINB6 transcript variant X6	XM_047418888.1:c.664+224G… XM_047418888.1:c.664+224G>T	N/A	Intron Variant
SERPINB6 transcript variant X7	XM_047418889.1:c.442+224G… XM_047418889.1:c.442+224G>T	N/A	Intron Variant
SERPINB6 transcript variant X11	XM_047418890.1:c.442+224G… XM_047418890.1:c.442+224G>T	N/A	Intron Variant
SERPINB6 transcript variant X12	XM_047418891.1:c.430+224G… XM_047418891.1:c.430+224G>T	N/A	Intron Variant
SERPINB6 transcript variant X8	XM_047418892.1:c.430+224G… XM_047418892.1:c.430+224G>T	N/A	Intron Variant
SERPINB6 transcript variant X9	XM_047418893.1:c.298+224G… XM_047418893.1:c.298+224G>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: 1163478 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001528072.1	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.2954368=	NC_000006.12:g.2954368C>A	NC_000006.12:g.2954368C>T
GRCh37.p13 chr 6	NC_000006.11:g.2954602=	NC_000006.11:g.2954602C>A	NC_000006.11:g.2954602C>T
SERPINB6 RefSeqGene	NG_027692.1:g.22798=	NG_027692.1:g.22798G>T	NG_027692.1:g.22798G>A
SERPINB6 transcript variant 2	NM_001195291.2:c.442+224=	NM_001195291.2:c.442+224G>T	NM_001195291.2:c.442+224G>A
SERPINB6 transcript variant 2	NM_001195291.3:c.442+224=	NM_001195291.3:c.442+224G>T	NM_001195291.3:c.442+224G>A
SERPINB6 transcript variant 3	NM_001271822.1:c.472+224=	NM_001271822.1:c.472+224G>T	NM_001271822.1:c.472+224G>A
SERPINB6 transcript variant 3	NM_001271822.2:c.472+224=	NM_001271822.2:c.472+224G>T	NM_001271822.2:c.472+224G>A
SERPINB6 transcript variant 4	NM_001271823.1:c.487+224=	NM_001271823.1:c.487+224G>T	NM_001271823.1:c.487+224G>A
SERPINB6 transcript variant 4	NM_001271823.2:c.487+224=	NM_001271823.2:c.487+224G>T	NM_001271823.2:c.487+224G>A
SERPINB6 transcript variant 5	NM_001271824.1:c.430+224=	NM_001271824.1:c.430+224G>T	NM_001271824.1:c.430+224G>A
SERPINB6 transcript variant 5	NM_001271824.2:c.430+224=	NM_001271824.2:c.430+224G>T	NM_001271824.2:c.430+224G>A
SERPINB6 transcript variant 6	NM_001271825.1:c.430+224=	NM_001271825.1:c.430+224G>T	NM_001271825.1:c.430+224G>A
SERPINB6 transcript variant 6	NM_001271825.2:c.430+224=	NM_001271825.2:c.430+224G>T	NM_001271825.2:c.430+224G>A
SERPINB6 transcript variant 7	NM_001297699.2:c.430+224=	NM_001297699.2:c.430+224G>T	NM_001297699.2:c.430+224G>A
SERPINB6 transcript variant 8	NM_001297700.2:c.430+224=	NM_001297700.2:c.430+224G>T	NM_001297700.2:c.430+224G>A
SERPINB6 transcript variant 9	NM_001374515.1:c.442+224=	NM_001374515.1:c.442+224G>T	NM_001374515.1:c.442+224G>A
SERPINB6 transcript variant 10	NM_001374516.1:c.430+224=	NM_001374516.1:c.430+224G>T	NM_001374516.1:c.430+224G>A
SERPINB6 transcript variant 11	NM_001374517.1:c.298+224=	NM_001374517.1:c.298+224G>T	NM_001374517.1:c.298+224G>A
SERPINB6 transcript variant 1	NM_004568.5:c.430+224=	NM_004568.5:c.430+224G>T	NM_004568.5:c.430+224G>A
SERPINB6 transcript variant 1	NM_004568.6:c.430+224=	NM_004568.6:c.430+224G>T	NM_004568.6:c.430+224G>A
SERPINB6 transcript variant X1	XM_005249181.1:c.529+224=	XM_005249181.1:c.529+224G>T	XM_005249181.1:c.529+224G>A
SERPINB6 transcript variant X2	XM_005249182.1:c.430+224=	XM_005249182.1:c.430+224G>T	XM_005249182.1:c.430+224G>A
SERPINB6 transcript variant X3	XM_005249183.1:c.163+224=	XM_005249183.1:c.163+224G>T	XM_005249183.1:c.163+224G>A
SERPINB6 transcript variant X2	XM_011514672.2:c.664+224=	XM_011514672.2:c.664+224G>T	XM_011514672.2:c.664+224G>A
SERPINB6 transcript variant X10	XM_017010941.2:c.298+224=	XM_017010941.2:c.298+224G>T	XM_017010941.2:c.298+224G>A
SERPINB6 transcript variant X13	XM_024446465.2:c.298+224=	XM_024446465.2:c.298+224G>T	XM_024446465.2:c.298+224G>A
SERPINB6 transcript variant X1	XM_047418883.1:c.664+224=	XM_047418883.1:c.664+224G>T	XM_047418883.1:c.664+224G>A
SERPINB6 transcript variant X3	XM_047418884.1:c.664+224=	XM_047418884.1:c.664+224G>T	XM_047418884.1:c.664+224G>A
SERPINB6 transcript variant X4	XM_047418885.1:c.664+224=	XM_047418885.1:c.664+224G>T	XM_047418885.1:c.664+224G>A
SERPINB6 transcript variant X5	XM_047418887.1:c.664+224=	XM_047418887.1:c.664+224G>T	XM_047418887.1:c.664+224G>A
SERPINB6 transcript variant X6	XM_047418888.1:c.664+224=	XM_047418888.1:c.664+224G>T	XM_047418888.1:c.664+224G>A
SERPINB6 transcript variant X7	XM_047418889.1:c.442+224=	XM_047418889.1:c.442+224G>T	XM_047418889.1:c.442+224G>A
SERPINB6 transcript variant X11	XM_047418890.1:c.442+224=	XM_047418890.1:c.442+224G>T	XM_047418890.1:c.442+224G>A
SERPINB6 transcript variant X12	XM_047418891.1:c.430+224=	XM_047418891.1:c.430+224G>T	XM_047418891.1:c.430+224G>A
SERPINB6 transcript variant X8	XM_047418892.1:c.430+224=	XM_047418892.1:c.430+224G>T	XM_047418892.1:c.430+224G>A
SERPINB6 transcript variant X9	XM_047418893.1:c.298+224=	XM_047418893.1:c.298+224G>T	XM_047418893.1:c.298+224G>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#.

66 SubSNP, 23 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3239644	Sep 28, 2001 (100)
2	SSAHASNP	ss22465344	Apr 05, 2004 (121)
3	ABI	ss44695577	Mar 14, 2006 (126)
4	AFFY	ss76524966	Dec 06, 2007 (129)
5	HUMANGENOME_JCVI	ss98361176	Feb 05, 2009 (130)
6	KRIBB_YJKIM	ss104868895	Feb 05, 2009 (130)
7	1000GENOMES	ss109699862	Jan 24, 2009 (130)
8	ENSEMBL	ss144317130	Dec 01, 2009 (131)
9	GMI	ss156453485	Dec 01, 2009 (131)
10	COMPLETE_GENOMICS	ss161966087	Jul 04, 2010 (132)
11	COMPLETE_GENOMICS	ss166030421	Jul 04, 2010 (132)
12	BCM-HGSC-SUB	ss207532242	Jul 04, 2010 (132)
13	1000GENOMES	ss222170893	Jul 14, 2010 (132)
14	1000GENOMES	ss233296330	Jul 14, 2010 (132)
15	1000GENOMES	ss240387745	Jul 15, 2010 (132)
16	BL	ss253989414	May 09, 2011 (134)
17	GMI	ss278626745	May 04, 2012 (137)
18	PJP	ss293584966	May 09, 2011 (134)
19	TISHKOFF	ss558958211	Apr 25, 2013 (138)
20	SSMP	ss652870090	Apr 25, 2013 (138)
21	EVA-GONL	ss982515939	Aug 21, 2014 (142)
22	JMKIDD_LAB	ss1073329488	Aug 21, 2014 (142)
23	1000GENOMES	ss1318717983	Aug 21, 2014 (142)
24	EVA_GENOME_DK	ss1581504469	Apr 01, 2015 (144)
25	EVA_DECODE	ss1592061564	Apr 01, 2015 (144)
26	EVA_UK10K_ALSPAC	ss1614811412	Apr 01, 2015 (144)
27	EVA_UK10K_TWINSUK	ss1657805445	Apr 01, 2015 (144)
28	EVA_SVP	ss1712829981	Apr 01, 2015 (144)
29	WEILL_CORNELL_DGM	ss1925773206	Feb 12, 2016 (147)
30	GENOMED	ss1970294350	Jul 19, 2016 (147)
31	JJLAB	ss2023501129	Sep 14, 2016 (149)
32	USC_VALOUEV	ss2151663049	Dec 20, 2016 (150)
33	HUMAN_LONGEVITY	ss2281271907	Dec 20, 2016 (150)
34	SYSTEMSBIOZJU	ss2626238873	Nov 08, 2017 (151)
35	GRF	ss2707247766	Nov 08, 2017 (151)
36	GNOMAD	ss2835087620	Nov 08, 2017 (151)
37	SWEGEN	ss2998412201	Nov 08, 2017 (151)
38	BIOINF_KMB_FNS_UNIBA	ss3025534027	Nov 08, 2017 (151)
39	CSHL	ss3346804503	Nov 08, 2017 (151)
40	URBANLAB	ss3648253371	Oct 12, 2018 (152)
41	EGCUT_WGS	ss3666335250	Jul 13, 2019 (153)
42	EVA_DECODE	ss3716454983	Jul 13, 2019 (153)
43	ACPOP	ss3733145455	Jul 13, 2019 (153)
44	EVA	ss3764532026	Jul 13, 2019 (153)
45	KHV_HUMAN_GENOMES	ss3807692913	Jul 13, 2019 (153)
46	EVA	ss3829696562	Apr 26, 2020 (154)
47	EVA	ss3838322766	Apr 26, 2020 (154)
48	EVA	ss3843762579	Apr 26, 2020 (154)
49	SGDP_PRJ	ss3863782871	Apr 26, 2020 (154)
50	KRGDB	ss3910516381	Apr 26, 2020 (154)
51	KOGIC	ss3958375440	Apr 26, 2020 (154)
52	EVA	ss3985194834	Apr 26, 2021 (155)
53	TOPMED	ss4691574177	Apr 26, 2021 (155)
54	TOMMO_GENOMICS	ss5175874561	Apr 26, 2021 (155)
55	1000G_HIGH_COVERAGE	ss5267175932	Oct 13, 2022 (156)
56	EVA	ss5363402596	Oct 13, 2022 (156)
57	HUGCELL_USP	ss5464990635	Oct 13, 2022 (156)
58	EVA	ss5508328770	Oct 13, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5552497103	Oct 13, 2022 (156)
60	SANFORD_IMAGENETICS	ss5639637777	Oct 13, 2022 (156)
61	TOMMO_GENOMICS	ss5713458429	Oct 13, 2022 (156)
62	YY_MCH	ss5807095232	Oct 13, 2022 (156)
63	EVA	ss5841703744	Oct 13, 2022 (156)
64	EVA	ss5855173828	Oct 13, 2022 (156)
65	EVA	ss5882395758	Oct 13, 2022 (156)
66	EVA	ss5968130766	Oct 13, 2022 (156)
67	1000Genomes	NC_000006.11 - 2954602	Oct 12, 2018 (152)
68	1000Genomes_30x	NC_000006.12 - 2954368	Oct 13, 2022 (156)
69	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 2954602	Oct 12, 2018 (152)
70	Chileans	NC_000006.11 - 2954602	Apr 26, 2020 (154)
71	Genetic variation in the Estonian population	NC_000006.11 - 2954602	Oct 12, 2018 (152)
72	The Danish reference pan genome	NC_000006.11 - 2954602	Apr 26, 2020 (154)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 215319438 (NC_000006.12:2954367:C:A 4/140094) Row 215319439 (NC_000006.12:2954367:C:T 34185/140054)	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 215319438 (NC_000006.12:2954367:C:A 4/140094) Row 215319439 (NC_000006.12:2954367:C:T 34185/140054)	-	Apr 26, 2021 (155)
75	Genome of the Netherlands Release 5	NC_000006.11 - 2954602	Apr 26, 2020 (154)
76	HapMap	NC_000006.12 - 2954368	Apr 26, 2020 (154)
77	KOREAN population from KRGDB	NC_000006.11 - 2954602	Apr 26, 2020 (154)
78	Korean Genome Project	NC_000006.12 - 2954368	Apr 26, 2020 (154)
79	Northern Sweden	NC_000006.11 - 2954602	Jul 13, 2019 (153)
80	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 2954602	Apr 26, 2021 (155)
81	Qatari	NC_000006.11 - 2954602	Apr 26, 2020 (154)
82	SGDP_PRJ	NC_000006.11 - 2954602	Apr 26, 2020 (154)
83	Siberian	NC_000006.11 - 2954602	Apr 26, 2020 (154)
84	8.3KJPN	NC_000006.11 - 2954602	Apr 26, 2021 (155)
85	14KJPN	NC_000006.12 - 2954368	Oct 13, 2022 (156)
86	TopMed	NC_000006.12 - 2954368	Apr 26, 2021 (155)
87	UK 10K study - Twins	NC_000006.11 - 2954602	Oct 12, 2018 (152)
88	A Vietnamese Genetic Variation Database	NC_000006.11 - 2954602	Jul 13, 2019 (153)
89	ALFA	NC_000006.12 - 2954368	Apr 26, 2021 (155)
90	ClinVar	RCV001528072.1	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2835087620	NC_000006.11:2954601:C:A	NC_000006.12:2954367:C:A	(self)
11382716292, ss2281271907	NC_000006.12:2954367:C:A	NC_000006.12:2954367:C:A	(self)
ss76524966, ss109699862, ss161966087, ss166030421, ss207532242, ss253989414, ss278626745, ss293584966, ss1592061564, ss1712829981	NC_000006.10:2899600:C:T	NC_000006.12:2954367:C:T	(self)
30450405, 16948578, 369017, 12073498, 7669408, 7522890, 17693775, 6430320, 420761, 7815136, 15799851, 4179403, 33843868, 16948578, 3753722, ss222170893, ss233296330, ss240387745, ss558958211, ss652870090, ss982515939, ss1073329488, ss1318717983, ss1581504469, ss1614811412, ss1657805445, ss1925773206, ss1970294350, ss2023501129, ss2151663049, ss2626238873, ss2707247766, ss2835087620, ss2998412201, ss3346804503, ss3666335250, ss3733145455, ss3764532026, ss3829696562, ss3838322766, ss3863782871, ss3910516381, ss3985194834, ss5175874561, ss5363402596, ss5508328770, ss5639637777, ss5841703744, ss5968130766	NC_000006.11:2954601:C:T	NC_000006.12:2954367:C:T	(self)
RCV001528072.1, 40023038, 3045858, 14753441, 47295533, 528951735, 11382716292, ss2281271907, ss3025534027, ss3648253371, ss3716454983, ss3807692913, ss3843762579, ss3958375440, ss4691574177, ss5267175932, ss5464990635, ss5552497103, ss5713458429, ss5807095232, ss5855173828, ss5882395758	NC_000006.12:2954367:C:T	NC_000006.12:2954367:C:T	(self)
ss3239644, ss44695577, ss98361176, ss104868895, ss144317130, ss156453485	NT_007592.15:2894601:C:T	NC_000006.12:2954367:C:T	(self)
ss22465344	NT_034880.3:2894600:C:T	NC_000006.12:2954367: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 rs2295768

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

rs2295768