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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.

rs11357910

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:174756037-174756053 (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)9 / del(A)6 / del(A)5 / del(…

del(A)9 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA

Variation Type
Indel Insertion and Deletion
Frequency
(A)17=0.1274 (638/5008, 1000G)
del(A)9=0.00 (0/48, ALFA)
del(A)5=0.00 (0/48, ALFA) (+ 4 more)
delAAA=0.00 (0/48, ALFA)
delAA=0.00 (0/48, ALFA)
delA=0.00 (0/48, ALFA)
dupA=0.00 (0/48, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CHRNA1 : 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 48 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
European Sub 28 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African Sub 14 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African Others Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
African American Sub 14 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Asian Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
East Asian Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 2 Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
South Asian Sub 4 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Sub 2 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=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)17=0.1274 delAA=0.8726
1000Genomes African Sub 1322 (A)17=0.2012 delAA=0.7988
1000Genomes East Asian Sub 1008 (A)17=0.0565 delAA=0.9435
1000Genomes Europe Sub 1006 (A)17=0.0666 delAA=0.9334
1000Genomes South Asian Sub 978 (A)17=0.222 delAA=0.778
1000Genomes American Sub 694 (A)17=0.045 delAA=0.955
Allele Frequency Aggregator Total Global 48 (A)17=1.00 del(A)9=0.00, del(A)5=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator European Sub 28 (A)17=1.00 del(A)9=0.00, del(A)5=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator African Sub 14 (A)17=1.00 del(A)9=0.00, del(A)5=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator South Asian Sub 4 (A)17=1.0 del(A)9=0.0, del(A)5=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator Other Sub 2 (A)17=1.0 del(A)9=0.0, del(A)5=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator Latin American 1 Sub 0 (A)17=0 del(A)9=0, del(A)5=0, delAAA=0, delAA=0, delA=0, dupA=0
Allele Frequency Aggregator Latin American 2 Sub 0 (A)17=0 del(A)9=0, del(A)5=0, delAAA=0, delAA=0, delA=0, dupA=0
Allele Frequency Aggregator Asian Sub 0 (A)17=0 del(A)9=0, del(A)5=0, delAAA=0, delAA=0, delA=0, dupA=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 2 NC_000002.12:g.174756045_174756053del
GRCh38.p14 chr 2 NC_000002.12:g.174756048_174756053del
GRCh38.p14 chr 2 NC_000002.12:g.174756049_174756053del
GRCh38.p14 chr 2 NC_000002.12:g.174756050_174756053del
GRCh38.p14 chr 2 NC_000002.12:g.174756051_174756053del
GRCh38.p14 chr 2 NC_000002.12:g.174756052_174756053del
GRCh38.p14 chr 2 NC_000002.12:g.174756053del
GRCh38.p14 chr 2 NC_000002.12:g.174756053dup
GRCh37.p13 chr 2 NC_000002.11:g.175620773_175620781del
GRCh37.p13 chr 2 NC_000002.11:g.175620776_175620781del
GRCh37.p13 chr 2 NC_000002.11:g.175620777_175620781del
GRCh37.p13 chr 2 NC_000002.11:g.175620778_175620781del
GRCh37.p13 chr 2 NC_000002.11:g.175620779_175620781del
GRCh37.p13 chr 2 NC_000002.11:g.175620780_175620781del
GRCh37.p13 chr 2 NC_000002.11:g.175620781del
GRCh37.p13 chr 2 NC_000002.11:g.175620781dup
CHRNA1 RefSeqGene NG_008172.1:g.13428_13436del
CHRNA1 RefSeqGene NG_008172.1:g.13431_13436del
CHRNA1 RefSeqGene NG_008172.1:g.13432_13436del
CHRNA1 RefSeqGene NG_008172.1:g.13433_13436del
CHRNA1 RefSeqGene NG_008172.1:g.13434_13436del
CHRNA1 RefSeqGene NG_008172.1:g.13435_13436del
CHRNA1 RefSeqGene NG_008172.1:g.13436del
CHRNA1 RefSeqGene NG_008172.1:g.13436dup
Gene: CHRNA1, cholinergic receptor nicotinic alpha 1 subunit (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CHRNA1 transcript variant 2 NM_000079.4:c.344+1521_34…

NM_000079.4:c.344+1521_344+1529del

N/A Intron Variant
CHRNA1 transcript variant 1 NM_001039523.3:c.419+1521…

NM_001039523.3:c.419+1521_419+1529del

N/A Intron Variant
CHRNA1 transcript variant X1 XM_017003256.2:c.440+1521…

XM_017003256.2:c.440+1521_440+1529del

N/A Intron Variant
CHRNA1 transcript variant X2 XM_017003257.2:c.365+1521…

XM_017003257.2:c.365+1521_365+1529del

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)17= del(A)9 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA
GRCh38.p14 chr 2 NC_000002.12:g.174756037_174756053= NC_000002.12:g.174756045_174756053del NC_000002.12:g.174756048_174756053del NC_000002.12:g.174756049_174756053del NC_000002.12:g.174756050_174756053del NC_000002.12:g.174756051_174756053del NC_000002.12:g.174756052_174756053del NC_000002.12:g.174756053del NC_000002.12:g.174756053dup
GRCh37.p13 chr 2 NC_000002.11:g.175620765_175620781= NC_000002.11:g.175620773_175620781del NC_000002.11:g.175620776_175620781del NC_000002.11:g.175620777_175620781del NC_000002.11:g.175620778_175620781del NC_000002.11:g.175620779_175620781del NC_000002.11:g.175620780_175620781del NC_000002.11:g.175620781del NC_000002.11:g.175620781dup
CHRNA1 RefSeqGene NG_008172.1:g.13420_13436= NG_008172.1:g.13428_13436del NG_008172.1:g.13431_13436del NG_008172.1:g.13432_13436del NG_008172.1:g.13433_13436del NG_008172.1:g.13434_13436del NG_008172.1:g.13435_13436del NG_008172.1:g.13436del NG_008172.1:g.13436dup
CHRNA1 transcript variant 2 NM_000079.3:c.344+1529= NM_000079.3:c.344+1521_344+1529del NM_000079.3:c.344+1524_344+1529del NM_000079.3:c.344+1525_344+1529del NM_000079.3:c.344+1526_344+1529del NM_000079.3:c.344+1527_344+1529del NM_000079.3:c.344+1528_344+1529del NM_000079.3:c.344+1529del NM_000079.3:c.344+1529dup
CHRNA1 transcript variant 2 NM_000079.4:c.344+1529= NM_000079.4:c.344+1521_344+1529del NM_000079.4:c.344+1524_344+1529del NM_000079.4:c.344+1525_344+1529del NM_000079.4:c.344+1526_344+1529del NM_000079.4:c.344+1527_344+1529del NM_000079.4:c.344+1528_344+1529del NM_000079.4:c.344+1529del NM_000079.4:c.344+1529dup
CHRNA1 transcript variant 1 NM_001039523.2:c.419+1529= NM_001039523.2:c.419+1521_419+1529del NM_001039523.2:c.419+1524_419+1529del NM_001039523.2:c.419+1525_419+1529del NM_001039523.2:c.419+1526_419+1529del NM_001039523.2:c.419+1527_419+1529del NM_001039523.2:c.419+1528_419+1529del NM_001039523.2:c.419+1529del NM_001039523.2:c.419+1529dup
CHRNA1 transcript variant 1 NM_001039523.3:c.419+1529= NM_001039523.3:c.419+1521_419+1529del NM_001039523.3:c.419+1524_419+1529del NM_001039523.3:c.419+1525_419+1529del NM_001039523.3:c.419+1526_419+1529del NM_001039523.3:c.419+1527_419+1529del NM_001039523.3:c.419+1528_419+1529del NM_001039523.3:c.419+1529del NM_001039523.3:c.419+1529dup
CHRNA1 transcript variant X1 XM_017003256.2:c.440+1529= XM_017003256.2:c.440+1521_440+1529del XM_017003256.2:c.440+1524_440+1529del XM_017003256.2:c.440+1525_440+1529del XM_017003256.2:c.440+1526_440+1529del XM_017003256.2:c.440+1527_440+1529del XM_017003256.2:c.440+1528_440+1529del XM_017003256.2:c.440+1529del XM_017003256.2:c.440+1529dup
CHRNA1 transcript variant X2 XM_017003257.2:c.365+1529= XM_017003257.2:c.365+1521_365+1529del XM_017003257.2:c.365+1524_365+1529del XM_017003257.2:c.365+1525_365+1529del XM_017003257.2:c.365+1526_365+1529del XM_017003257.2:c.365+1527_365+1529del XM_017003257.2:c.365+1528_365+1529del XM_017003257.2:c.365+1529del XM_017003257.2:c.365+1529dup
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#.

63 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss77889492 Aug 21, 2014 (142)
2 HGSV ss81705160 Dec 15, 2007 (130)
3 HUMANGENOME_JCVI ss95293865 Mar 15, 2016 (147)
4 BUSHMAN ss193576821 Mar 15, 2016 (147)
5 GMI ss287710681 Mar 15, 2016 (147)
6 GMI ss288256823 May 04, 2012 (137)
7 PJP ss295015289 May 09, 2011 (134)
8 SSMP ss663260718 Apr 01, 2015 (144)
9 BILGI_BIOE ss666176682 Apr 25, 2013 (138)
10 1000GENOMES ss1369190919 Aug 21, 2014 (142)
11 DDI ss1536318344 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1703292442 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1703292492 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1710039870 Apr 01, 2015 (144)
15 EVA_UK10K_ALSPAC ss1710039873 Apr 01, 2015 (144)
16 HAMMER_LAB ss1797949287 Sep 08, 2015 (146)
17 SYSTEMSBIOZJU ss2625002344 Nov 08, 2017 (151)
18 SWEGEN ss2990903314 Nov 08, 2017 (151)
19 MCHAISSO ss3063967840 Nov 08, 2017 (151)
20 MCHAISSO ss3064822107 Nov 08, 2017 (151)
21 MCHAISSO ss3064822108 Nov 08, 2017 (151)
22 MCHAISSO ss3065780064 Nov 08, 2017 (151)
23 URBANLAB ss3647212223 Oct 11, 2018 (152)
24 EVA_DECODE ss3705471889 Jul 13, 2019 (153)
25 EVA_DECODE ss3705471890 Jul 13, 2019 (153)
26 EVA_DECODE ss3705471891 Jul 13, 2019 (153)
27 EVA_DECODE ss3705471892 Jul 13, 2019 (153)
28 ACPOP ss3729128662 Jul 13, 2019 (153)
29 ACPOP ss3729128663 Jul 13, 2019 (153)
30 PACBIO ss3784074672 Jul 13, 2019 (153)
31 PACBIO ss3784074673 Jul 13, 2019 (153)
32 PACBIO ss3789625373 Jul 13, 2019 (153)
33 PACBIO ss3794498436 Jul 13, 2019 (153)
34 KHV_HUMAN_GENOMES ss3802107529 Jul 13, 2019 (153)
35 EVA ss3827366177 Apr 25, 2020 (154)
36 EVA ss3842522005 Apr 25, 2020 (154)
37 KOGIC ss3949547894 Apr 25, 2020 (154)
38 KOGIC ss3949547895 Apr 25, 2020 (154)
39 KOGIC ss3949547896 Apr 25, 2020 (154)
40 GNOMAD ss4056018836 Apr 25, 2021 (155)
41 GNOMAD ss4056018837 Apr 25, 2021 (155)
42 GNOMAD ss4056018838 Apr 25, 2021 (155)
43 GNOMAD ss4056018839 Apr 25, 2021 (155)
44 GNOMAD ss4056018840 Apr 25, 2021 (155)
45 GNOMAD ss4056018841 Apr 25, 2021 (155)
46 GNOMAD ss4056018842 Apr 25, 2021 (155)
47 GNOMAD ss4056018843 Apr 25, 2021 (155)
48 TOMMO_GENOMICS ss5155224757 Apr 25, 2021 (155)
49 TOMMO_GENOMICS ss5155224758 Apr 25, 2021 (155)
50 TOMMO_GENOMICS ss5155224759 Apr 25, 2021 (155)
51 1000G_HIGH_COVERAGE ss5251048611 Oct 12, 2022 (156)
52 1000G_HIGH_COVERAGE ss5251048612 Oct 12, 2022 (156)
53 1000G_HIGH_COVERAGE ss5251048613 Oct 12, 2022 (156)
54 1000G_HIGH_COVERAGE ss5251048614 Oct 12, 2022 (156)
55 HUGCELL_USP ss5450761493 Oct 12, 2022 (156)
56 HUGCELL_USP ss5450761494 Oct 12, 2022 (156)
57 HUGCELL_USP ss5450761495 Oct 12, 2022 (156)
58 TOMMO_GENOMICS ss5685739399 Oct 12, 2022 (156)
59 TOMMO_GENOMICS ss5685739400 Oct 12, 2022 (156)
60 TOMMO_GENOMICS ss5685739401 Oct 12, 2022 (156)
61 EVA ss5821210454 Oct 12, 2022 (156)
62 EVA ss5821210455 Oct 12, 2022 (156)
63 EVA ss5933570651 Oct 12, 2022 (156)
64 1000Genomes NC_000002.11 - 175620765 Oct 11, 2018 (152)
65 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 6393207 (NC_000002.11:175620765:A: 3340/3854)
Row 6393208 (NC_000002.11:175620764:AAA: 514/3854)

- Oct 11, 2018 (152)
66 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 6393207 (NC_000002.11:175620765:A: 3340/3854)
Row 6393208 (NC_000002.11:175620764:AAA: 514/3854)

- Oct 11, 2018 (152)
67 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 82528220 (NC_000002.12:174756036::A 247/129478)
Row 82528221 (NC_000002.12:174756036:A: 25211/129196)
Row 82528222 (NC_000002.12:174756036:AA: 94837/129572)...

- Apr 25, 2021 (155)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 82528220 (NC_000002.12:174756036::A 247/129478)
Row 82528221 (NC_000002.12:174756036:A: 25211/129196)
Row 82528222 (NC_000002.12:174756036:AA: 94837/129572)...

- Apr 25, 2021 (155)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 82528220 (NC_000002.12:174756036::A 247/129478)
Row 82528221 (NC_000002.12:174756036:A: 25211/129196)
Row 82528222 (NC_000002.12:174756036:AA: 94837/129572)...

- Apr 25, 2021 (155)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 82528220 (NC_000002.12:174756036::A 247/129478)
Row 82528221 (NC_000002.12:174756036:A: 25211/129196)
Row 82528222 (NC_000002.12:174756036:AA: 94837/129572)...

- Apr 25, 2021 (155)
71 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 82528220 (NC_000002.12:174756036::A 247/129478)
Row 82528221 (NC_000002.12:174756036:A: 25211/129196)
Row 82528222 (NC_000002.12:174756036:AA: 94837/129572)...

- Apr 25, 2021 (155)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 82528220 (NC_000002.12:174756036::A 247/129478)
Row 82528221 (NC_000002.12:174756036:A: 25211/129196)
Row 82528222 (NC_000002.12:174756036:AA: 94837/129572)...

- Apr 25, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 82528220 (NC_000002.12:174756036::A 247/129478)
Row 82528221 (NC_000002.12:174756036:A: 25211/129196)
Row 82528222 (NC_000002.12:174756036:AA: 94837/129572)...

- Apr 25, 2021 (155)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 82528220 (NC_000002.12:174756036::A 247/129478)
Row 82528221 (NC_000002.12:174756036:A: 25211/129196)
Row 82528222 (NC_000002.12:174756036:AA: 94837/129572)...

- Apr 25, 2021 (155)
75 Korean Genome Project

Submission ignored due to conflicting rows:
Row 5925895 (NC_000002.12:174756036:AAA: 175/1832)
Row 5925896 (NC_000002.12:174756037:AA: 1459/1832)
Row 5925897 (NC_000002.12:174756038:A: 112/1832)

- Apr 25, 2020 (154)
76 Korean Genome Project

Submission ignored due to conflicting rows:
Row 5925895 (NC_000002.12:174756036:AAA: 175/1832)
Row 5925896 (NC_000002.12:174756037:AA: 1459/1832)
Row 5925897 (NC_000002.12:174756038:A: 112/1832)

- Apr 25, 2020 (154)
77 Korean Genome Project

Submission ignored due to conflicting rows:
Row 5925895 (NC_000002.12:174756036:AAA: 175/1832)
Row 5925896 (NC_000002.12:174756037:AA: 1459/1832)
Row 5925897 (NC_000002.12:174756038:A: 112/1832)

- Apr 25, 2020 (154)
78 Northern Sweden

Submission ignored due to conflicting rows:
Row 2413527 (NC_000002.11:175620764:AA: 472/588)
Row 2413528 (NC_000002.11:175620764:A: 16/588)

- Jul 13, 2019 (153)
79 Northern Sweden

Submission ignored due to conflicting rows:
Row 2413527 (NC_000002.11:175620764:AA: 472/588)
Row 2413528 (NC_000002.11:175620764:A: 16/588)

- Jul 13, 2019 (153)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 13194064 (NC_000002.11:175620764:AA: 15728/16758)
Row 13194065 (NC_000002.11:175620764:AAA: 25/16758)
Row 13194066 (NC_000002.11:175620764:A: 35/16758)

- Apr 25, 2021 (155)
81 8.3KJPN

Submission ignored due to conflicting rows:
Row 13194064 (NC_000002.11:175620764:AA: 15728/16758)
Row 13194065 (NC_000002.11:175620764:AAA: 25/16758)
Row 13194066 (NC_000002.11:175620764:A: 35/16758)

- Apr 25, 2021 (155)
82 8.3KJPN

Submission ignored due to conflicting rows:
Row 13194064 (NC_000002.11:175620764:AA: 15728/16758)
Row 13194065 (NC_000002.11:175620764:AAA: 25/16758)
Row 13194066 (NC_000002.11:175620764:A: 35/16758)

- Apr 25, 2021 (155)
83 14KJPN

Submission ignored due to conflicting rows:
Row 19576503 (NC_000002.12:174756036:AA: 26523/28256)
Row 19576504 (NC_000002.12:174756036:AAA: 40/28256)
Row 19576505 (NC_000002.12:174756036:A: 63/28256)

- Oct 12, 2022 (156)
84 14KJPN

Submission ignored due to conflicting rows:
Row 19576503 (NC_000002.12:174756036:AA: 26523/28256)
Row 19576504 (NC_000002.12:174756036:AAA: 40/28256)
Row 19576505 (NC_000002.12:174756036:A: 63/28256)

- Oct 12, 2022 (156)
85 14KJPN

Submission ignored due to conflicting rows:
Row 19576503 (NC_000002.12:174756036:AA: 26523/28256)
Row 19576504 (NC_000002.12:174756036:AAA: 40/28256)
Row 19576505 (NC_000002.12:174756036:A: 63/28256)

- Oct 12, 2022 (156)
86 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 6393207 (NC_000002.11:175620765:A: 3263/3708)
Row 6393208 (NC_000002.11:175620764:AAA: 445/3708)

- Oct 11, 2018 (152)
87 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 6393207 (NC_000002.11:175620765:A: 3263/3708)
Row 6393208 (NC_000002.11:175620764:AAA: 445/3708)

- Oct 11, 2018 (152)
88 ALFA NC_000002.12 - 174756037 Apr 25, 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)
rs113759893 May 11, 2012 (137)
rs200998551 May 11, 2012 (137)
rs34625337 May 23, 2006 (127)
rs60944394 May 26, 2008 (130)
rs67549768 Oct 26, 2010 (133)
rs67549769 Feb 27, 2009 (130)
rs67549770 Feb 27, 2009 (130)
rs67549771 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4056018843 NC_000002.12:174756036:AAAAAAAAA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
2812029 NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAA

NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
ss4056018842 NC_000002.12:174756036:AAAAAA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4056018841 NC_000002.12:174756036:AAAAA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
2812029 NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3705471892, ss4056018840 NC_000002.12:174756036:AAAA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss1703292442, ss1703292492, ss3784074672, ss5155224758, ss5821210455 NC_000002.11:175620764:AAA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3949547894, ss4056018839, ss5251048613, ss5450761493, ss5685739400 NC_000002.12:174756036:AAA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
2812029 NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3705471891 NC_000002.12:174756037:AAA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss77889492 NC_000002.9:175446286:AA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss288256823 NC_000002.10:175329010:AA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss295015289 NC_000002.10:175329025:AA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
11578079, ss663260718, ss666176682, ss1369190919, ss1536318344, ss1797949287, ss2625002344, ss2990903314, ss3729128662, ss3784074673, ss3789625373, ss3794498436, ss3827366177, ss5155224757, ss5821210454 NC_000002.11:175620764:AA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss1710039870, ss1710039873 NC_000002.11:175620765:AA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3063967840, ss3064822107, ss3064822108, ss3065780064, ss3647212223, ss3802107529, ss3842522005, ss4056018838, ss5251048611, ss5450761494, ss5685739399, ss5933570651 NC_000002.12:174756036:AA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
2812029 NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3949547895 NC_000002.12:174756037:AA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3705471890 NC_000002.12:174756038:AA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss193576821, ss287710681 NT_005403.17:25830182:AA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss95293865 NT_005403.17:25830197:AA: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss81705160 NC_000002.9:175446287:A: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3729128663, ss5155224759 NC_000002.11:175620764:A: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
NC_000002.11:175620765:A: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4056018837, ss5251048612, ss5450761495, ss5685739401 NC_000002.12:174756036:A: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
2812029 NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3949547896 NC_000002.12:174756038:A: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3705471889 NC_000002.12:174756039:A: NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4056018836, ss5251048614 NC_000002.12:174756036::A NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
2812029 NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000002.12:174756036:AAAAAAAAAAA…

NC_000002.12:174756036:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(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 rs11357910

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