Name: rs11327981
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.

rs11327981

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:32349815-32349832 (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: del(A)₆ / del(A)₅ / del(A)₄ / delA…
del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₈=0.4932 (2470/5008, 1000G)
delAA=0.2597 (1001/3854, ALSPAC)
del(A)₆=0.000 (0/152, ALFA) (+ 9 more)
del(A)₅=0.000 (0/152, ALFA)
del(A)₄=0.000 (0/152, ALFA)
delAAA=0.000 (0/152, ALFA)
delAA=0.000 (0/152, ALFA)
delA=0.000 (0/152, ALFA)
dupA=0.000 (0/152, ALFA)
dupAA=0.000 (0/152, ALFA)
dupAAA=0.000 (0/152, ALFA)
dup(A)₄=0.000 (0/152, ALFA)

Clinical Significance: Reported in ClinVar
Gene : Consequence: BRCA2 : 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	152	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	28	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African	Sub	118	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	2	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	116	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	2	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	4	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A

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
1000Genomes	Global	Study-wide	5008	(A)₁₈=0.4932	delA=0.5068
1000Genomes	African	Sub	1322	(A)₁₈=0.4909	delA=0.5091
1000Genomes	East Asian	Sub	1008	(A)₁₈=0.5139	delA=0.4861
1000Genomes	Europe	Sub	1006	(A)₁₈=0.4374	delA=0.5626
1000Genomes	South Asian	Sub	978	(A)₁₈=0.541	delA=0.459
1000Genomes	American	Sub	694	(A)₁₈=0.481	delA=0.519
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₈=0.7403	delAA=0.2597
Allele Frequency Aggregator	Total	Global	152	(A)₁₈=1.000	del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	African	Sub	118	(A)₁₈=1.000	del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	European	Sub	28	(A)₁₈=1.00	del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	Other	Sub	4	(A)₁₈=1.0	del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(A)₁₈=1.0	del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	Latin American 2	Sub	0	(A)₁₈=0	del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₁₈=0	del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₁₈=0	del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0

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 13	NC_000013.11:g.32349827_32349832del
GRCh38.p14 chr 13	NC_000013.11:g.32349828_32349832del
GRCh38.p14 chr 13	NC_000013.11:g.32349829_32349832del
GRCh38.p14 chr 13	NC_000013.11:g.32349830_32349832del
GRCh38.p14 chr 13	NC_000013.11:g.32349831_32349832del
GRCh38.p14 chr 13	NC_000013.11:g.32349832del
GRCh38.p14 chr 13	NC_000013.11:g.32349832dup
GRCh38.p14 chr 13	NC_000013.11:g.32349831_32349832dup
GRCh38.p14 chr 13	NC_000013.11:g.32349830_32349832dup
GRCh38.p14 chr 13	NC_000013.11:g.32349829_32349832dup
GRCh37.p13 chr 13	NC_000013.10:g.32923964_32923969del
GRCh37.p13 chr 13	NC_000013.10:g.32923965_32923969del
GRCh37.p13 chr 13	NC_000013.10:g.32923966_32923969del
GRCh37.p13 chr 13	NC_000013.10:g.32923967_32923969del
GRCh37.p13 chr 13	NC_000013.10:g.32923968_32923969del
GRCh37.p13 chr 13	NC_000013.10:g.32923969del
GRCh37.p13 chr 13	NC_000013.10:g.32923969dup
GRCh37.p13 chr 13	NC_000013.10:g.32923968_32923969dup
GRCh37.p13 chr 13	NC_000013.10:g.32923967_32923969dup
GRCh37.p13 chr 13	NC_000013.10:g.32923966_32923969dup
BRCA2 RefSeqGene (LRG_293)	NG_012772.3:g.39348_39353del
BRCA2 RefSeqGene (LRG_293)	NG_012772.3:g.39349_39353del
BRCA2 RefSeqGene (LRG_293)	NG_012772.3:g.39350_39353del
BRCA2 RefSeqGene (LRG_293)	NG_012772.3:g.39351_39353del
BRCA2 RefSeqGene (LRG_293)	NG_012772.3:g.39352_39353del
BRCA2 RefSeqGene (LRG_293)	NG_012772.3:g.39353del
BRCA2 RefSeqGene (LRG_293)	NG_012772.3:g.39353dup
BRCA2 RefSeqGene (LRG_293)	NG_012772.3:g.39352_39353dup
BRCA2 RefSeqGene (LRG_293)	NG_012772.3:g.39351_39353dup
BRCA2 RefSeqGene (LRG_293)	NG_012772.3:g.39350_39353dup

Gene: BRCA2, BRCA2 DNA repair associated (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BRCA2 transcript variant 1	NM_000059.4:c.7007+2931_7… NM_000059.4:c.7007+2931_7007+2936del	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: delA (allele ID: 259461 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000255658.1	Breast-ovarian cancer, familial, susceptibility to, 2	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)₁₈=	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 13	NC_000013.11:g.32349815_32349832=	NC_000013.11:g.32349827_32349832del	NC_000013.11:g.32349828_32349832del	NC_000013.11:g.32349829_32349832del	NC_000013.11:g.32349830_32349832del	NC_000013.11:g.32349831_32349832del	NC_000013.11:g.32349832del	NC_000013.11:g.32349832dup	NC_000013.11:g.32349831_32349832dup	NC_000013.11:g.32349830_32349832dup	NC_000013.11:g.32349829_32349832dup
GRCh37.p13 chr 13	NC_000013.10:g.32923952_32923969=	NC_000013.10:g.32923964_32923969del	NC_000013.10:g.32923965_32923969del	NC_000013.10:g.32923966_32923969del	NC_000013.10:g.32923967_32923969del	NC_000013.10:g.32923968_32923969del	NC_000013.10:g.32923969del	NC_000013.10:g.32923969dup	NC_000013.10:g.32923968_32923969dup	NC_000013.10:g.32923967_32923969dup	NC_000013.10:g.32923966_32923969dup
BRCA2 RefSeqGene (LRG_293)	NG_012772.3:g.39336_39353=	NG_012772.3:g.39348_39353del	NG_012772.3:g.39349_39353del	NG_012772.3:g.39350_39353del	NG_012772.3:g.39351_39353del	NG_012772.3:g.39352_39353del	NG_012772.3:g.39353del	NG_012772.3:g.39353dup	NG_012772.3:g.39352_39353dup	NG_012772.3:g.39351_39353dup	NG_012772.3:g.39350_39353dup
BRCA2 transcript	NM_000059.3:c.7007+2919=	NM_000059.3:c.7007+2931_7007+2936del	NM_000059.3:c.7007+2932_7007+2936del	NM_000059.3:c.7007+2933_7007+2936del	NM_000059.3:c.7007+2934_7007+2936del	NM_000059.3:c.7007+2935_7007+2936del	NM_000059.3:c.7007+2936del	NM_000059.3:c.7007+2936dup	NM_000059.3:c.7007+2935_7007+2936dup	NM_000059.3:c.7007+2934_7007+2936dup	NM_000059.3:c.7007+2933_7007+2936dup
BRCA2 transcript variant 1	NM_000059.4:c.7007+2919=	NM_000059.4:c.7007+2931_7007+2936del	NM_000059.4:c.7007+2932_7007+2936del	NM_000059.4:c.7007+2933_7007+2936del	NM_000059.4:c.7007+2934_7007+2936del	NM_000059.4:c.7007+2935_7007+2936del	NM_000059.4:c.7007+2936del	NM_000059.4:c.7007+2936dup	NM_000059.4:c.7007+2935_7007+2936dup	NM_000059.4:c.7007+2934_7007+2936dup	NM_000059.4:c.7007+2933_7007+2936dup

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#.

55 SubSNP, 24 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	DEVINE_LAB	ss15206490	Mar 15, 2016 (136)
2	HGSV	ss77976481	Dec 07, 2007 (137)
3	HGSV	ss81593397	Dec 16, 2007 (137)
4	HGSV	ss81655433	Dec 14, 2007 (144)
5	HUMANGENOME_JCVI	ss95616607	Dec 05, 2013 (138)
6	PJP	ss294790844	May 09, 2011 (134)
7	PJP	ss294790845	Jan 10, 2018 (151)
8	1000GENOMES	ss1373001578	Feb 12, 2016 (136)
9	EVA_UK10K_ALSPAC	ss1707736108	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1707736166	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1710595882	Apr 01, 2015 (136)
12	EVA_UK10K_ALSPAC	ss1710595937	Apr 01, 2015 (136)
13	SWEGEN	ss3010818932	Nov 08, 2017 (151)
14	URBANLAB	ss3650004277	Oct 12, 2018 (152)
15	EVA_DECODE	ss3695046112	Jul 13, 2019 (153)
16	EVA_DECODE	ss3695046113	Jul 13, 2019 (153)
17	EVA_DECODE	ss3695046114	Jul 13, 2019 (153)
18	EVA_DECODE	ss3695046115	Jul 13, 2019 (153)
19	EVA_DECODE	ss3695046116	Jul 13, 2019 (153)
20	PACBIO	ss3787422682	Jul 13, 2019 (153)
21	PACBIO	ss3792494336	Jul 13, 2019 (153)
22	PACBIO	ss3797378084	Jul 13, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3816641346	Jul 13, 2019 (153)
24	EVA	ss3833481989	Apr 27, 2020 (154)
25	GNOMAD	ss4263713081	Apr 27, 2021 (155)
26	GNOMAD	ss4263713082	Apr 27, 2021 (155)
27	GNOMAD	ss4263713083	Apr 27, 2021 (155)
28	GNOMAD	ss4263713084	Apr 27, 2021 (155)
29	GNOMAD	ss4263713085	Apr 27, 2021 (155)
30	GNOMAD	ss4263713086	Apr 27, 2021 (155)
31	GNOMAD	ss4263713087	Apr 27, 2021 (155)
32	GNOMAD	ss4263713088	Apr 27, 2021 (155)
33	GNOMAD	ss4263713089	Apr 27, 2021 (155)
34	TOMMO_GENOMICS	ss5209437944	Apr 27, 2021 (155)
35	TOMMO_GENOMICS	ss5209437945	Apr 27, 2021 (155)
36	TOMMO_GENOMICS	ss5209437946	Apr 27, 2021 (155)
37	TOMMO_GENOMICS	ss5209437947	Apr 27, 2021 (155)
38	TOMMO_GENOMICS	ss5209437948	Apr 27, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5293303350	Oct 16, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5293303352	Oct 16, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5293303353	Oct 16, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5293303354	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5293303355	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5487709724	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5487709725	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5487709726	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5487709727	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5761154767	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5761154768	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5761154769	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5761154771	Oct 16, 2022 (156)
52	EVA	ss5839304573	Oct 16, 2022 (156)
53	EVA	ss5839304574	Oct 16, 2022 (156)
54	EVA	ss5839304575	Oct 16, 2022 (156)
55	EVA	ss5839304576	Oct 16, 2022 (156)
56	1000Genomes	NC_000013.10 - 32923952	Oct 12, 2018 (152)
57	The Avon Longitudinal Study of Parents and Children	NC_000013.10 - 32923952	Oct 12, 2018 (152)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 427157962 (NC_000013.11:32349814::A 43376/105962) Row 427157963 (NC_000013.11:32349814::AA 5378/106062) Row 427157964 (NC_000013.11:32349814::AAA 53/106134)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 427157962 (NC_000013.11:32349814::A 43376/105962) Row 427157963 (NC_000013.11:32349814::AA 5378/106062) Row 427157964 (NC_000013.11:32349814::AAA 53/106134)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 427157962 (NC_000013.11:32349814::A 43376/105962) Row 427157963 (NC_000013.11:32349814::AA 5378/106062) Row 427157964 (NC_000013.11:32349814::AAA 53/106134)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 427157962 (NC_000013.11:32349814::A 43376/105962) Row 427157963 (NC_000013.11:32349814::AA 5378/106062) Row 427157964 (NC_000013.11:32349814::AAA 53/106134)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 427157962 (NC_000013.11:32349814::A 43376/105962) Row 427157963 (NC_000013.11:32349814::AA 5378/106062) Row 427157964 (NC_000013.11:32349814::AAA 53/106134)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 427157962 (NC_000013.11:32349814::A 43376/105962) Row 427157963 (NC_000013.11:32349814::AA 5378/106062) Row 427157964 (NC_000013.11:32349814::AAA 53/106134)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 427157962 (NC_000013.11:32349814::A 43376/105962) Row 427157963 (NC_000013.11:32349814::AA 5378/106062) Row 427157964 (NC_000013.11:32349814::AAA 53/106134)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 427157962 (NC_000013.11:32349814::A 43376/105962) Row 427157963 (NC_000013.11:32349814::AA 5378/106062) Row 427157964 (NC_000013.11:32349814::AAA 53/106134)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 427157962 (NC_000013.11:32349814::A 43376/105962) Row 427157963 (NC_000013.11:32349814::AA 5378/106062) Row 427157964 (NC_000013.11:32349814::AAA 53/106134)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 427157962 (NC_000013.11:32349814::A 43376/105962) Row 427157963 (NC_000013.11:32349814::AA 5378/106062) Row 427157964 (NC_000013.11:32349814::AAA 53/106134)...	-	Apr 27, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 67407251 (NC_000013.10:32923951::A 4849/16486) Row 67407252 (NC_000013.10:32923951:A: 7427/16486) Row 67407253 (NC_000013.10:32923951::AA 1629/16486)...	-	Apr 27, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 67407251 (NC_000013.10:32923951::A 4849/16486) Row 67407252 (NC_000013.10:32923951:A: 7427/16486) Row 67407253 (NC_000013.10:32923951::AA 1629/16486)...	-	Apr 27, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 67407251 (NC_000013.10:32923951::A 4849/16486) Row 67407252 (NC_000013.10:32923951:A: 7427/16486) Row 67407253 (NC_000013.10:32923951::AA 1629/16486)...	-	Apr 27, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 67407251 (NC_000013.10:32923951::A 4849/16486) Row 67407252 (NC_000013.10:32923951:A: 7427/16486) Row 67407253 (NC_000013.10:32923951::AA 1629/16486)...	-	Apr 27, 2021 (155)
72	8.3KJPN Submission ignored due to conflicting rows: Row 67407251 (NC_000013.10:32923951::A 4849/16486) Row 67407252 (NC_000013.10:32923951:A: 7427/16486) Row 67407253 (NC_000013.10:32923951::AA 1629/16486)...	-	Apr 27, 2021 (155)
73	14KJPN Submission ignored due to conflicting rows: Row 94991871 (NC_000013.11:32349814:A: 13805/28214) Row 94991872 (NC_000013.11:32349814::A 8796/28214) Row 94991873 (NC_000013.11:32349814::AA 3024/28214)...	-	Oct 16, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 94991871 (NC_000013.11:32349814:A: 13805/28214) Row 94991872 (NC_000013.11:32349814::A 8796/28214) Row 94991873 (NC_000013.11:32349814::AA 3024/28214)...	-	Oct 16, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 94991871 (NC_000013.11:32349814:A: 13805/28214) Row 94991872 (NC_000013.11:32349814::A 8796/28214) Row 94991873 (NC_000013.11:32349814::AA 3024/28214)...	-	Oct 16, 2022 (156)
76	14KJPN Submission ignored due to conflicting rows: Row 94991871 (NC_000013.11:32349814:A: 13805/28214) Row 94991872 (NC_000013.11:32349814::A 8796/28214) Row 94991873 (NC_000013.11:32349814::AA 3024/28214)...	-	Oct 16, 2022 (156)
77	UK 10K study - Twins	-	Oct 12, 2018 (152)
78	UK 10K study - Twins Submission ignored due to conflicting rows: Row 33650019 (NC_000013.10:32923951:AA: 914/3708) Row 33650020 (NC_000013.10:32923952:A: 2285/3708)	-	Apr 27, 2020 (154)
79	ALFA	NC_000013.11 - 32349815	Apr 27, 2021 (155)
80	ClinVar	RCV000255658.1	Oct 12, 2018 (152)

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)
rs775303854	Feb 27, 2017 (136)
rs868599975	Feb 27, 2017 (136)
rs869169337	Jul 19, 2016 (147)
rs33991957	May 23, 2006 (127)
rs56138343	May 11, 2012 (137)
rs57103617	Jul 01, 2015 (144)
rs61634598	May 27, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3010818932	NC_000013.10:32923951:AAAAAA:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4263713089, ss5487709727	NC_000013.11:32349814:AAAAAA:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
11930154257	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4263713088	NC_000013.11:32349814:AAAAA:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
11930154257	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4263713087	NC_000013.11:32349814:AAAA:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
11930154257	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3695046116, ss4263713086	NC_000013.11:32349814:AAA:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
11930154257	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
33650019, ss1707736108, ss1707736166, ss5209437947, ss5839304576	NC_000013.10:32923951:AA:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4263713085, ss5293303354	NC_000013.11:32349814:AA:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
11930154257	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3695046115	NC_000013.11:32349815:AA:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss294790844	NC_000013.9:31821951:A:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss77976481, ss81593397	NC_000013.9:31821968:A:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
60581373, ss1373001578, ss3787422682, ss3792494336, ss3797378084, ss3833481989, ss5209437945, ss5839304573	NC_000013.10:32923951:A:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1710595882, ss1710595937	NC_000013.10:32923952:A:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3650004277, ss3816641346, ss5293303350, ss5487709724, ss5761154767	NC_000013.11:32349814:A:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
RCV000255658.1, 11930154257	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3695046114	NC_000013.11:32349816:A:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss15206490	NT_024524.14:13903951:A:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss95616607	NT_024524.14:13903968:A:	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss294790845	NC_000013.9:31821969::A	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5209437944, ss5839304574	NC_000013.10:32923951::A	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4263713081, ss5293303352, ss5487709726, ss5761154768	NC_000013.11:32349814::A	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
11930154257	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3695046113	NC_000013.11:32349817::A	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss81655433	NT_024524.14:13903969::A	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5209437946, ss5839304575	NC_000013.10:32923951::AA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4263713082, ss5293303353, ss5487709725, ss5761154769	NC_000013.11:32349814::AA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
11930154257	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3695046112	NC_000013.11:32349817::AA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5209437948	NC_000013.10:32923951::AAA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4263713083, ss5293303355, ss5761154771	NC_000013.11:32349814::AAA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
11930154257	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4263713084	NC_000013.11:32349814::AAAA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
11930154257	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000013.11:32349814:AAAAAAAAAAAA… NC_000013.11:32349814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(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 rs11327981

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

rs11327981