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dbSNP Short Genetic Variations

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.

rs11341939

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:120826293-120826311 (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)12 / del(A)9 / del(A)8 / del…

del(A)12 / del(A)9 / del(A)8 / del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA

Variation Type
Indel Insertion and Deletion
Frequency
(A)19=0.3634 (1820/5008, 1000G)
del(A)12=0.000 (0/290, ALFA)
del(A)9=0.000 (0/290, ALFA) (+ 10 more)
del(A)8=0.000 (0/290, ALFA)
del(A)6=0.000 (0/290, ALFA)
del(A)5=0.000 (0/290, ALFA)
del(A)4=0.000 (0/290, ALFA)
delAAA=0.000 (0/290, ALFA)
delAA=0.000 (0/290, ALFA)
delA=0.000 (0/290, ALFA)
dupA=0.000 (0/290, ALFA)
dupAA=0.000 (0/290, ALFA)
dupAAA=0.000 (0/290, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SPPL3 : 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 290 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
European Sub 112 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Sub 160 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 6 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 154 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 0 AAAAAAAAAAAAAAAAAAA=0 AAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
East Asian Sub 0 AAAAAAAAAAAAAAAAAAA=0 AAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAAAA=0 AAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 0 AAAAAAAAAAAAAAAAAAA=0 AAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 2 Sub 6 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
South Asian Sub 2 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Sub 10 AAAAAAAAAAAAAAAAAAA=1.0 AAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
1000Genomes Global Study-wide 5008 (A)19=0.3634 delAA=0.6366
1000Genomes African Sub 1322 (A)19=0.4834 delAA=0.5166
1000Genomes East Asian Sub 1008 (A)19=0.2063 delAA=0.7937
1000Genomes Europe Sub 1006 (A)19=0.3598 delAA=0.6402
1000Genomes South Asian Sub 978 (A)19=0.421 delAA=0.579
1000Genomes American Sub 694 (A)19=0.287 delAA=0.713
Allele Frequency Aggregator Total Global 290 (A)19=1.000 del(A)12=0.000, del(A)9=0.000, del(A)8=0.000, 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
Allele Frequency Aggregator African Sub 160 (A)19=1.000 del(A)12=0.000, del(A)9=0.000, del(A)8=0.000, 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
Allele Frequency Aggregator European Sub 112 (A)19=1.000 del(A)12=0.000, del(A)9=0.000, del(A)8=0.000, 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
Allele Frequency Aggregator Other Sub 10 (A)19=1.0 del(A)12=0.0, del(A)9=0.0, del(A)8=0.0, 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
Allele Frequency Aggregator Latin American 2 Sub 6 (A)19=1.0 del(A)12=0.0, del(A)9=0.0, del(A)8=0.0, 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
Allele Frequency Aggregator South Asian Sub 2 (A)19=1.0 del(A)12=0.0, del(A)9=0.0, del(A)8=0.0, 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
Allele Frequency Aggregator Latin American 1 Sub 0 (A)19=0 del(A)12=0, del(A)9=0, del(A)8=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
Allele Frequency Aggregator Asian Sub 0 (A)19=0 del(A)12=0, del(A)9=0, del(A)8=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
Help

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 12 NC_000012.12:g.120826300_120826311del
GRCh38.p14 chr 12 NC_000012.12:g.120826303_120826311del
GRCh38.p14 chr 12 NC_000012.12:g.120826304_120826311del
GRCh38.p14 chr 12 NC_000012.12:g.120826305_120826311del
GRCh38.p14 chr 12 NC_000012.12:g.120826306_120826311del
GRCh38.p14 chr 12 NC_000012.12:g.120826307_120826311del
GRCh38.p14 chr 12 NC_000012.12:g.120826308_120826311del
GRCh38.p14 chr 12 NC_000012.12:g.120826309_120826311del
GRCh38.p14 chr 12 NC_000012.12:g.120826310_120826311del
GRCh38.p14 chr 12 NC_000012.12:g.120826311del
GRCh38.p14 chr 12 NC_000012.12:g.120826311dup
GRCh38.p14 chr 12 NC_000012.12:g.120826310_120826311dup
GRCh38.p14 chr 12 NC_000012.12:g.120826309_120826311dup
GRCh37.p13 chr 12 NC_000012.11:g.121264103_121264114del
GRCh37.p13 chr 12 NC_000012.11:g.121264106_121264114del
GRCh37.p13 chr 12 NC_000012.11:g.121264107_121264114del
GRCh37.p13 chr 12 NC_000012.11:g.121264108_121264114del
GRCh37.p13 chr 12 NC_000012.11:g.121264109_121264114del
GRCh37.p13 chr 12 NC_000012.11:g.121264110_121264114del
GRCh37.p13 chr 12 NC_000012.11:g.121264111_121264114del
GRCh37.p13 chr 12 NC_000012.11:g.121264112_121264114del
GRCh37.p13 chr 12 NC_000012.11:g.121264113_121264114del
GRCh37.p13 chr 12 NC_000012.11:g.121264114del
GRCh37.p13 chr 12 NC_000012.11:g.121264114dup
GRCh37.p13 chr 12 NC_000012.11:g.121264113_121264114dup
GRCh37.p13 chr 12 NC_000012.11:g.121264112_121264114dup
Gene: SPPL3, signal peptide peptidase like 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SPPL3 transcript NM_139015.5:c.24-15418_24…

NM_139015.5:c.24-15418_24-15407del

N/A Intron Variant
SPPL3 transcript variant X1 XM_011537925.3:c.24-15418…

XM_011537925.3:c.24-15418_24-15407del

N/A Intron Variant
Help

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.

Not Reported in ClinVar
Help

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)19= del(A)12 del(A)9 del(A)8 del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA
GRCh38.p14 chr 12 NC_000012.12:g.120826293_120826311= NC_000012.12:g.120826300_120826311del NC_000012.12:g.120826303_120826311del NC_000012.12:g.120826304_120826311del NC_000012.12:g.120826305_120826311del NC_000012.12:g.120826306_120826311del NC_000012.12:g.120826307_120826311del NC_000012.12:g.120826308_120826311del NC_000012.12:g.120826309_120826311del NC_000012.12:g.120826310_120826311del NC_000012.12:g.120826311del NC_000012.12:g.120826311dup NC_000012.12:g.120826310_120826311dup NC_000012.12:g.120826309_120826311dup
GRCh37.p13 chr 12 NC_000012.11:g.121264096_121264114= NC_000012.11:g.121264103_121264114del NC_000012.11:g.121264106_121264114del NC_000012.11:g.121264107_121264114del NC_000012.11:g.121264108_121264114del NC_000012.11:g.121264109_121264114del NC_000012.11:g.121264110_121264114del NC_000012.11:g.121264111_121264114del NC_000012.11:g.121264112_121264114del NC_000012.11:g.121264113_121264114del NC_000012.11:g.121264114del NC_000012.11:g.121264114dup NC_000012.11:g.121264113_121264114dup NC_000012.11:g.121264112_121264114dup
SPPL3 transcript NM_139015.4:c.24-15407= NM_139015.4:c.24-15418_24-15407del NM_139015.4:c.24-15415_24-15407del NM_139015.4:c.24-15414_24-15407del NM_139015.4:c.24-15413_24-15407del NM_139015.4:c.24-15412_24-15407del NM_139015.4:c.24-15411_24-15407del NM_139015.4:c.24-15410_24-15407del NM_139015.4:c.24-15409_24-15407del NM_139015.4:c.24-15408_24-15407del NM_139015.4:c.24-15407del NM_139015.4:c.24-15407dup NM_139015.4:c.24-15408_24-15407dup NM_139015.4:c.24-15409_24-15407dup
SPPL3 transcript NM_139015.5:c.24-15407= NM_139015.5:c.24-15418_24-15407del NM_139015.5:c.24-15415_24-15407del NM_139015.5:c.24-15414_24-15407del NM_139015.5:c.24-15413_24-15407del NM_139015.5:c.24-15412_24-15407del NM_139015.5:c.24-15411_24-15407del NM_139015.5:c.24-15410_24-15407del NM_139015.5:c.24-15409_24-15407del NM_139015.5:c.24-15408_24-15407del NM_139015.5:c.24-15407del NM_139015.5:c.24-15407dup NM_139015.5:c.24-15408_24-15407dup NM_139015.5:c.24-15409_24-15407dup
SPPL3 transcript variant X1 XM_005253841.1:c.-88-15407= XM_005253841.1:c.-88-15418_-88-15407del XM_005253841.1:c.-88-15415_-88-15407del XM_005253841.1:c.-88-15414_-88-15407del XM_005253841.1:c.-88-15413_-88-15407del XM_005253841.1:c.-88-15412_-88-15407del XM_005253841.1:c.-88-15411_-88-15407del XM_005253841.1:c.-88-15410_-88-15407del XM_005253841.1:c.-88-15409_-88-15407del XM_005253841.1:c.-88-15408_-88-15407del XM_005253841.1:c.-88-15407del XM_005253841.1:c.-88-15407dup XM_005253841.1:c.-88-15408_-88-15407dup XM_005253841.1:c.-88-15409_-88-15407dup
SPPL3 transcript variant X1 XM_011537925.3:c.24-15407= XM_011537925.3:c.24-15418_24-15407del XM_011537925.3:c.24-15415_24-15407del XM_011537925.3:c.24-15414_24-15407del XM_011537925.3:c.24-15413_24-15407del XM_011537925.3:c.24-15412_24-15407del XM_011537925.3:c.24-15411_24-15407del XM_011537925.3:c.24-15410_24-15407del XM_011537925.3:c.24-15409_24-15407del XM_011537925.3:c.24-15408_24-15407del XM_011537925.3:c.24-15407del XM_011537925.3:c.24-15407dup XM_011537925.3:c.24-15408_24-15407dup XM_011537925.3:c.24-15409_24-15407dup
Help

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#.

58 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss40100104 Mar 14, 2006 (137)
2 HGSV ss77885468 Dec 06, 2007 (129)
3 HGSV ss81495396 Aug 21, 2014 (144)
4 HGSV ss82273709 Aug 21, 2014 (142)
5 HUMANGENOME_JCVI ss95609387 Mar 15, 2016 (147)
6 GMI ss289156312 May 04, 2012 (137)
7 PJP ss294778266 May 09, 2011 (137)
8 PJP ss294778267 May 09, 2011 (134)
9 1000GENOMES ss1372711449 Aug 21, 2014 (142)
10 EVA_UK10K_ALSPAC ss1707652487 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1707652495 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1710584001 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1710584002 Apr 01, 2015 (144)
14 SYSTEMSBIOZJU ss2628207338 Nov 08, 2017 (151)
15 SWEGEN ss3010462601 Nov 08, 2017 (151)
16 MCHAISSO ss3063748841 Nov 08, 2017 (151)
17 MCHAISSO ss3065501280 Nov 08, 2017 (151)
18 URBANLAB ss3649935633 Oct 12, 2018 (152)
19 EVA_DECODE ss3694608840 Jul 13, 2019 (153)
20 EVA_DECODE ss3694608841 Jul 13, 2019 (153)
21 EVA_DECODE ss3694608842 Jul 13, 2019 (153)
22 EVA_DECODE ss3694608843 Jul 13, 2019 (153)
23 EVA_DECODE ss3694608844 Jul 13, 2019 (153)
24 PACBIO ss3792433947 Jul 13, 2019 (153)
25 PACBIO ss3792433948 Jul 13, 2019 (153)
26 PACBIO ss3797317102 Jul 13, 2019 (153)
27 PACBIO ss3797317103 Jul 13, 2019 (153)
28 KHV_HUMAN_GENOMES ss3816379813 Jul 13, 2019 (153)
29 GNOMAD ss4260229524 Apr 26, 2021 (155)
30 GNOMAD ss4260229525 Apr 26, 2021 (155)
31 GNOMAD ss4260229526 Apr 26, 2021 (155)
32 GNOMAD ss4260229527 Apr 26, 2021 (155)
33 GNOMAD ss4260229528 Apr 26, 2021 (155)
34 GNOMAD ss4260229529 Apr 26, 2021 (155)
35 GNOMAD ss4260229530 Apr 26, 2021 (155)
36 GNOMAD ss4260229531 Apr 26, 2021 (155)
37 GNOMAD ss4260229532 Apr 26, 2021 (155)
38 GNOMAD ss4260229533 Apr 26, 2021 (155)
39 GNOMAD ss4260229534 Apr 26, 2021 (155)
40 GNOMAD ss4260229535 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5208489861 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5208489862 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5208489863 Apr 26, 2021 (155)
44 1000G_HIGH_COVERAGE ss5292480385 Oct 16, 2022 (156)
45 1000G_HIGH_COVERAGE ss5292480386 Oct 16, 2022 (156)
46 1000G_HIGH_COVERAGE ss5292480387 Oct 16, 2022 (156)
47 1000G_HIGH_COVERAGE ss5292480388 Oct 16, 2022 (156)
48 HUGCELL_USP ss5487060718 Oct 16, 2022 (156)
49 HUGCELL_USP ss5487060719 Oct 16, 2022 (156)
50 HUGCELL_USP ss5487060720 Oct 16, 2022 (156)
51 TOMMO_GENOMICS ss5758912295 Oct 16, 2022 (156)
52 TOMMO_GENOMICS ss5758912296 Oct 16, 2022 (156)
53 TOMMO_GENOMICS ss5758912297 Oct 16, 2022 (156)
54 TOMMO_GENOMICS ss5758912298 Oct 16, 2022 (156)
55 EVA ss5838609825 Oct 16, 2022 (156)
56 EVA ss5838609826 Oct 16, 2022 (156)
57 EVA ss5850577519 Oct 16, 2022 (156)
58 EVA ss5980765748 Oct 16, 2022 (156)
59 1000Genomes NC_000012.11 - 121264096 Oct 12, 2018 (152)
60 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 33182017 (NC_000012.11:121264096:A: 3221/3854)
Row 33182018 (NC_000012.11:121264095:AAA: 633/3854)

- Oct 12, 2018 (152)
61 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 33182017 (NC_000012.11:121264096:A: 3221/3854)
Row 33182018 (NC_000012.11:121264095:AAA: 633/3854)

- Oct 12, 2018 (152)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 421356986 (NC_000012.12:120826292::A 922/108586)
Row 421356987 (NC_000012.12:120826292::AA 28/108616)
Row 421356988 (NC_000012.12:120826292::AAA 5/108610)...

- Apr 26, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 421356986 (NC_000012.12:120826292::A 922/108586)
Row 421356987 (NC_000012.12:120826292::AA 28/108616)
Row 421356988 (NC_000012.12:120826292::AAA 5/108610)...

- Apr 26, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 421356986 (NC_000012.12:120826292::A 922/108586)
Row 421356987 (NC_000012.12:120826292::AA 28/108616)
Row 421356988 (NC_000012.12:120826292::AAA 5/108610)...

- Apr 26, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 421356986 (NC_000012.12:120826292::A 922/108586)
Row 421356987 (NC_000012.12:120826292::AA 28/108616)
Row 421356988 (NC_000012.12:120826292::AAA 5/108610)...

- Apr 26, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 421356986 (NC_000012.12:120826292::A 922/108586)
Row 421356987 (NC_000012.12:120826292::AA 28/108616)
Row 421356988 (NC_000012.12:120826292::AAA 5/108610)...

- Apr 26, 2021 (155)
67 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 421356986 (NC_000012.12:120826292::A 922/108586)
Row 421356987 (NC_000012.12:120826292::AA 28/108616)
Row 421356988 (NC_000012.12:120826292::AAA 5/108610)...

- Apr 26, 2021 (155)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 421356986 (NC_000012.12:120826292::A 922/108586)
Row 421356987 (NC_000012.12:120826292::AA 28/108616)
Row 421356988 (NC_000012.12:120826292::AAA 5/108610)...

- Apr 26, 2021 (155)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 421356986 (NC_000012.12:120826292::A 922/108586)
Row 421356987 (NC_000012.12:120826292::AA 28/108616)
Row 421356988 (NC_000012.12:120826292::AAA 5/108610)...

- Apr 26, 2021 (155)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 421356986 (NC_000012.12:120826292::A 922/108586)
Row 421356987 (NC_000012.12:120826292::AA 28/108616)
Row 421356988 (NC_000012.12:120826292::AAA 5/108610)...

- Apr 26, 2021 (155)
71 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 421356986 (NC_000012.12:120826292::A 922/108586)
Row 421356987 (NC_000012.12:120826292::AA 28/108616)
Row 421356988 (NC_000012.12:120826292::AAA 5/108610)...

- Apr 26, 2021 (155)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 421356986 (NC_000012.12:120826292::A 922/108586)
Row 421356987 (NC_000012.12:120826292::AA 28/108616)
Row 421356988 (NC_000012.12:120826292::AAA 5/108610)...

- Apr 26, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 421356986 (NC_000012.12:120826292::A 922/108586)
Row 421356987 (NC_000012.12:120826292::AA 28/108616)
Row 421356988 (NC_000012.12:120826292::AAA 5/108610)...

- Apr 26, 2021 (155)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 421356986 (NC_000012.12:120826292::A 922/108586)
Row 421356987 (NC_000012.12:120826292::AA 28/108616)
Row 421356988 (NC_000012.12:120826292::AAA 5/108610)...

- Apr 26, 2021 (155)
75 8.3KJPN

Submission ignored due to conflicting rows:
Row 66459168 (NC_000012.11:121264095:A: 5759/16554)
Row 66459169 (NC_000012.11:121264095:AA: 8744/16554)
Row 66459170 (NC_000012.11:121264095:AAAAAAAA: 1/16554)

- Apr 26, 2021 (155)
76 8.3KJPN

Submission ignored due to conflicting rows:
Row 66459168 (NC_000012.11:121264095:A: 5759/16554)
Row 66459169 (NC_000012.11:121264095:AA: 8744/16554)
Row 66459170 (NC_000012.11:121264095:AAAAAAAA: 1/16554)

- Apr 26, 2021 (155)
77 8.3KJPN

Submission ignored due to conflicting rows:
Row 66459168 (NC_000012.11:121264095:A: 5759/16554)
Row 66459169 (NC_000012.11:121264095:AA: 8744/16554)
Row 66459170 (NC_000012.11:121264095:AAAAAAAA: 1/16554)

- Apr 26, 2021 (155)
78 14KJPN

Submission ignored due to conflicting rows:
Row 92749399 (NC_000012.12:120826292:AA: 15831/28152)
Row 92749400 (NC_000012.12:120826292:A: 10387/28152)
Row 92749401 (NC_000012.12:120826292:AAA: 14/28152)...

- Oct 16, 2022 (156)
79 14KJPN

Submission ignored due to conflicting rows:
Row 92749399 (NC_000012.12:120826292:AA: 15831/28152)
Row 92749400 (NC_000012.12:120826292:A: 10387/28152)
Row 92749401 (NC_000012.12:120826292:AAA: 14/28152)...

- Oct 16, 2022 (156)
80 14KJPN

Submission ignored due to conflicting rows:
Row 92749399 (NC_000012.12:120826292:AA: 15831/28152)
Row 92749400 (NC_000012.12:120826292:A: 10387/28152)
Row 92749401 (NC_000012.12:120826292:AAA: 14/28152)...

- Oct 16, 2022 (156)
81 14KJPN

Submission ignored due to conflicting rows:
Row 92749399 (NC_000012.12:120826292:AA: 15831/28152)
Row 92749400 (NC_000012.12:120826292:A: 10387/28152)
Row 92749401 (NC_000012.12:120826292:AAA: 14/28152)...

- Oct 16, 2022 (156)
82 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 33182017 (NC_000012.11:121264096:A: 3105/3708)
Row 33182018 (NC_000012.11:121264095:AAA: 603/3708)

- Oct 12, 2018 (152)
83 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 33182017 (NC_000012.11:121264096:A: 3105/3708)
Row 33182018 (NC_000012.11:121264095:AAA: 603/3708)

- Oct 12, 2018 (152)
84 ALFA NC_000012.12 - 120826293 Apr 26, 2021 (155)
Help

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)
rs869043419 Jul 19, 2016 (147)
rs57755692 May 24, 2008 (130)
rs34752680 May 11, 2012 (137)
rs35783037 May 11, 2012 (137)
rs61457375 May 11, 2012 (137)
rs71928120 May 11, 2012 (137)
rs71945185 May 11, 2012 (137)
rs201298464 May 11, 2012 (137)
rs572878146 Jul 01, 2015 (144)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4260229535 NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAA:

NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAA

(self)
2948216692 NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAA

NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAA

(self)
ss4260229534 NC_000012.12:120826292:AAAAAAAAA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
2948216692 NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss5208489863 NC_000012.11:121264095:AAAAAAAA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4260229533, ss5758912298 NC_000012.12:120826292:AAAAAAAA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
2948216692 NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4260229532 NC_000012.12:120826292:AAAAAAA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4260229531 NC_000012.12:120826292:AAAAAA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
2948216692 NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3694608844, ss4260229530 NC_000012.12:120826292:AAAAA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
2948216692 NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4260229529 NC_000012.12:120826292:AAAA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
2948216692 NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3694608843 NC_000012.12:120826293:AAAA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss77885468 NC_000012.9:119726831:AAA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss1707652487, ss1707652495, ss5838609826 NC_000012.11:121264095:AAA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4260229528, ss5758912297, ss5850577519 NC_000012.12:120826292:AAA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
2948216692 NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3694608842 NC_000012.12:120826294:AAA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss81495396 NC_000012.9:119726832:AA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss289156312 NC_000012.10:119748478:AA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss294778267 NC_000012.10:119748495:AA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
59736843, ss1372711449, ss2628207338, ss3010462601, ss3792433947, ss3797317102, ss5208489862, ss5838609825, ss5980765748 NC_000012.11:121264095:AA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss1710584001, ss1710584002 NC_000012.11:121264096:AA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3063748841, ss3065501280, ss3816379813, ss4260229527, ss5292480386, ss5487060719, ss5758912295 NC_000012.12:120826292:AA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
2948216692 NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3694608841 NC_000012.12:120826295:AA: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss82273709 NC_000012.9:119726833:A: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss294778266 NC_000012.10:119748478:A: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3792433948, ss3797317103, ss5208489861 NC_000012.11:121264095:A: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
NC_000012.11:121264096:A: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3649935633, ss5292480385, ss5487060718, ss5758912296 NC_000012.12:120826292:A: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
2948216692 NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3694608840 NC_000012.12:120826296:A: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss40100104 NT_009775.17:11840625:A: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss95609387 NT_009775.17:11840643:A: NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4260229524, ss5292480387, ss5487060720 NC_000012.12:120826292::A NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
2948216692 NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4260229525, ss5292480388 NC_000012.12:120826292::AA NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
2948216692 NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4260229526 NC_000012.12:120826292::AAA NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
2948216692 NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000012.12:120826292:AAAAAAAAAAA…

NC_000012.12:120826292:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs11341939

Help

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.

Software version is: 2.0.1.post820+afb47a3d