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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.

rs11322950

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:111661801-111661817 (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)8 / del(A)5 / del(A)4 / delA…

del(A)8 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA

Variation Type
Indel Insertion and Deletion
Frequency
del(A)8=0.000004 (1/264690, TOPMED)
del(A)8=0.0000 (0/7152, ALFA)
delAAA=0.0000 (0/7152, ALFA) (+ 7 more)
delAA=0.0000 (0/7152, ALFA)
delA=0.0000 (0/7152, ALFA)
dupA=0.0000 (0/7152, ALFA)
dupAA=0.0000 (0/7152, ALFA)
dupAAA=0.0000 (0/7152, ALFA)
delA=0.3171 (1588/5008, 1000G)
delA=0.120 (67/558, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RAP1A : 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 7152 AAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 4692 AAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 1616 AAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 68 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 1548 AAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 64 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 52 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 12 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 88 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 368 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 54 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 270 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 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
TopMed Global Study-wide 264690 (A)17=0.999996 del(A)8=0.000004
Allele Frequency Aggregator Total Global 7152 (A)17=1.0000 del(A)8=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator European Sub 4692 (A)17=1.0000 del(A)8=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator African Sub 1616 (A)17=1.0000 del(A)8=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator Latin American 2 Sub 368 (A)17=1.000 del(A)8=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 270 (A)17=1.000 del(A)8=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator Latin American 1 Sub 88 (A)17=1.00 del(A)8=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator Asian Sub 64 (A)17=1.00 del(A)8=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator South Asian Sub 54 (A)17=1.00 del(A)8=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
1000Genomes Global Study-wide 5008 (A)17=0.6829 delA=0.3171
1000Genomes African Sub 1322 (A)17=0.6899 delA=0.3101
1000Genomes East Asian Sub 1008 (A)17=0.6895 delA=0.3105
1000Genomes Europe Sub 1006 (A)17=0.6909 delA=0.3091
1000Genomes South Asian Sub 978 (A)17=0.681 delA=0.319
1000Genomes American Sub 694 (A)17=0.651 delA=0.349
Northern Sweden ACPOP Study-wide 558 (A)17=0.880 delA=0.120
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 1 NC_000001.11:g.111661810_111661817del
GRCh38.p14 chr 1 NC_000001.11:g.111661813_111661817del
GRCh38.p14 chr 1 NC_000001.11:g.111661814_111661817del
GRCh38.p14 chr 1 NC_000001.11:g.111661815_111661817del
GRCh38.p14 chr 1 NC_000001.11:g.111661816_111661817del
GRCh38.p14 chr 1 NC_000001.11:g.111661817del
GRCh38.p14 chr 1 NC_000001.11:g.111661817dup
GRCh38.p14 chr 1 NC_000001.11:g.111661816_111661817dup
GRCh38.p14 chr 1 NC_000001.11:g.111661815_111661817dup
GRCh37.p13 chr 1 NC_000001.10:g.112204432_112204439del
GRCh37.p13 chr 1 NC_000001.10:g.112204435_112204439del
GRCh37.p13 chr 1 NC_000001.10:g.112204436_112204439del
GRCh37.p13 chr 1 NC_000001.10:g.112204437_112204439del
GRCh37.p13 chr 1 NC_000001.10:g.112204438_112204439del
GRCh37.p13 chr 1 NC_000001.10:g.112204439del
GRCh37.p13 chr 1 NC_000001.10:g.112204439dup
GRCh37.p13 chr 1 NC_000001.10:g.112204438_112204439dup
GRCh37.p13 chr 1 NC_000001.10:g.112204437_112204439dup
Gene: RAP1A, RAP1A, member of RAS oncogene family (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RAP1A transcript variant 1 NM_001010935.3:c.-27-2952…

NM_001010935.3:c.-27-29524_-27-29517del

N/A Intron Variant
RAP1A transcript variant 3 NM_001291896.3:c.-27-2952…

NM_001291896.3:c.-27-29524_-27-29517del

N/A Intron Variant
RAP1A transcript variant 4 NM_001370216.2:c.-27-2952…

NM_001370216.2:c.-27-29524_-27-29517del

N/A Intron Variant
RAP1A transcript variant 5 NM_001370217.2:c.-107-298…

NM_001370217.2:c.-107-2982_-107-2975del

N/A Intron Variant
RAP1A transcript variant 6 NM_001394066.1:c.-107-298…

NM_001394066.1:c.-107-2982_-107-2975del

N/A Intron Variant
RAP1A transcript variant 2 NM_002884.4:c.-27-29524_-…

NM_002884.4:c.-27-29524_-27-29517del

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)8 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA
GRCh38.p14 chr 1 NC_000001.11:g.111661801_111661817= NC_000001.11:g.111661810_111661817del NC_000001.11:g.111661813_111661817del NC_000001.11:g.111661814_111661817del NC_000001.11:g.111661815_111661817del NC_000001.11:g.111661816_111661817del NC_000001.11:g.111661817del NC_000001.11:g.111661817dup NC_000001.11:g.111661816_111661817dup NC_000001.11:g.111661815_111661817dup
GRCh37.p13 chr 1 NC_000001.10:g.112204423_112204439= NC_000001.10:g.112204432_112204439del NC_000001.10:g.112204435_112204439del NC_000001.10:g.112204436_112204439del NC_000001.10:g.112204437_112204439del NC_000001.10:g.112204438_112204439del NC_000001.10:g.112204439del NC_000001.10:g.112204439dup NC_000001.10:g.112204438_112204439dup NC_000001.10:g.112204437_112204439dup
RAP1A transcript variant 1 NM_001010935.1:c.-27-29533= NM_001010935.1:c.-27-29524_-27-29517del NM_001010935.1:c.-27-29521_-27-29517del NM_001010935.1:c.-27-29520_-27-29517del NM_001010935.1:c.-27-29519_-27-29517del NM_001010935.1:c.-27-29518_-27-29517del NM_001010935.1:c.-27-29517del NM_001010935.1:c.-27-29517dup NM_001010935.1:c.-27-29518_-27-29517dup NM_001010935.1:c.-27-29519_-27-29517dup
RAP1A transcript variant 1 NM_001010935.3:c.-27-29533= NM_001010935.3:c.-27-29524_-27-29517del NM_001010935.3:c.-27-29521_-27-29517del NM_001010935.3:c.-27-29520_-27-29517del NM_001010935.3:c.-27-29519_-27-29517del NM_001010935.3:c.-27-29518_-27-29517del NM_001010935.3:c.-27-29517del NM_001010935.3:c.-27-29517dup NM_001010935.3:c.-27-29518_-27-29517dup NM_001010935.3:c.-27-29519_-27-29517dup
RAP1A transcript variant 3 NM_001291896.3:c.-27-29533= NM_001291896.3:c.-27-29524_-27-29517del NM_001291896.3:c.-27-29521_-27-29517del NM_001291896.3:c.-27-29520_-27-29517del NM_001291896.3:c.-27-29519_-27-29517del NM_001291896.3:c.-27-29518_-27-29517del NM_001291896.3:c.-27-29517del NM_001291896.3:c.-27-29517dup NM_001291896.3:c.-27-29518_-27-29517dup NM_001291896.3:c.-27-29519_-27-29517dup
RAP1A transcript variant 4 NM_001370216.2:c.-27-29533= NM_001370216.2:c.-27-29524_-27-29517del NM_001370216.2:c.-27-29521_-27-29517del NM_001370216.2:c.-27-29520_-27-29517del NM_001370216.2:c.-27-29519_-27-29517del NM_001370216.2:c.-27-29518_-27-29517del NM_001370216.2:c.-27-29517del NM_001370216.2:c.-27-29517dup NM_001370216.2:c.-27-29518_-27-29517dup NM_001370216.2:c.-27-29519_-27-29517dup
RAP1A transcript variant 5 NM_001370217.2:c.-107-2991= NM_001370217.2:c.-107-2982_-107-2975del NM_001370217.2:c.-107-2979_-107-2975del NM_001370217.2:c.-107-2978_-107-2975del NM_001370217.2:c.-107-2977_-107-2975del NM_001370217.2:c.-107-2976_-107-2975del NM_001370217.2:c.-107-2975del NM_001370217.2:c.-107-2975dup NM_001370217.2:c.-107-2976_-107-2975dup NM_001370217.2:c.-107-2977_-107-2975dup
RAP1A transcript variant 6 NM_001394066.1:c.-107-2991= NM_001394066.1:c.-107-2982_-107-2975del NM_001394066.1:c.-107-2979_-107-2975del NM_001394066.1:c.-107-2978_-107-2975del NM_001394066.1:c.-107-2977_-107-2975del NM_001394066.1:c.-107-2976_-107-2975del NM_001394066.1:c.-107-2975del NM_001394066.1:c.-107-2975dup NM_001394066.1:c.-107-2976_-107-2975dup NM_001394066.1:c.-107-2977_-107-2975dup
RAP1A transcript variant 2 NM_002884.2:c.-27-29533= NM_002884.2:c.-27-29524_-27-29517del NM_002884.2:c.-27-29521_-27-29517del NM_002884.2:c.-27-29520_-27-29517del NM_002884.2:c.-27-29519_-27-29517del NM_002884.2:c.-27-29518_-27-29517del NM_002884.2:c.-27-29517del NM_002884.2:c.-27-29517dup NM_002884.2:c.-27-29518_-27-29517dup NM_002884.2:c.-27-29519_-27-29517dup
RAP1A transcript variant 2 NM_002884.4:c.-27-29533= NM_002884.4:c.-27-29524_-27-29517del NM_002884.4:c.-27-29521_-27-29517del NM_002884.4:c.-27-29520_-27-29517del NM_002884.4:c.-27-29519_-27-29517del NM_002884.4:c.-27-29518_-27-29517del NM_002884.4:c.-27-29517del NM_002884.4:c.-27-29517dup NM_002884.4:c.-27-29518_-27-29517dup NM_002884.4:c.-27-29519_-27-29517dup
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#.

41 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41184127 Dec 03, 2013 (138)
2 HGSV ss80333583 Dec 15, 2007 (137)
3 BCMHGSC_JDW ss103489188 Dec 01, 2009 (131)
4 1000GENOMES ss1367817169 Aug 21, 2014 (142)
5 SWEGEN ss2987443096 Nov 08, 2017 (151)
6 MCHAISSO ss3063603654 Nov 08, 2017 (151)
7 EVA_DECODE ss3687536069 Jul 12, 2019 (153)
8 EVA_DECODE ss3687536070 Jul 12, 2019 (153)
9 EVA_DECODE ss3687536071 Jul 12, 2019 (153)
10 EVA_DECODE ss3687536072 Jul 12, 2019 (153)
11 EVA_DECODE ss3687536073 Jul 12, 2019 (153)
12 ACPOP ss3727391585 Jul 12, 2019 (153)
13 KHV_HUMAN_GENOMES ss3799679272 Jul 12, 2019 (153)
14 EVA ss3826371339 Apr 25, 2020 (154)
15 EVA ss3836577222 Apr 25, 2020 (154)
16 EVA ss3841985608 Apr 25, 2020 (154)
17 KOGIC ss3945252545 Apr 25, 2020 (154)
18 KOGIC ss3945252546 Apr 25, 2020 (154)
19 KOGIC ss3945252547 Apr 25, 2020 (154)
20 GNOMAD ss4000487382 Apr 25, 2021 (155)
21 GNOMAD ss4000487383 Apr 25, 2021 (155)
22 GNOMAD ss4000487384 Apr 25, 2021 (155)
23 GNOMAD ss4000487385 Apr 25, 2021 (155)
24 GNOMAD ss4000487386 Apr 25, 2021 (155)
25 GNOMAD ss4000487387 Apr 25, 2021 (155)
26 GNOMAD ss4000487388 Apr 25, 2021 (155)
27 TOPMED ss4463706151 Apr 25, 2021 (155)
28 TOMMO_GENOMICS ss5145692738 Apr 25, 2021 (155)
29 TOMMO_GENOMICS ss5145692739 Apr 25, 2021 (155)
30 TOMMO_GENOMICS ss5145692740 Apr 25, 2021 (155)
31 1000G_HIGH_COVERAGE ss5243618689 Oct 12, 2022 (156)
32 1000G_HIGH_COVERAGE ss5243618690 Oct 12, 2022 (156)
33 1000G_HIGH_COVERAGE ss5243618691 Oct 12, 2022 (156)
34 HUGCELL_USP ss5444541770 Oct 12, 2022 (156)
35 HUGCELL_USP ss5444541771 Oct 12, 2022 (156)
36 HUGCELL_USP ss5444541772 Oct 12, 2022 (156)
37 TOMMO_GENOMICS ss5670963788 Oct 12, 2022 (156)
38 TOMMO_GENOMICS ss5670963790 Oct 12, 2022 (156)
39 TOMMO_GENOMICS ss5670963791 Oct 12, 2022 (156)
40 TOMMO_GENOMICS ss5670963792 Oct 12, 2022 (156)
41 EVA ss5849069309 Oct 12, 2022 (156)
42 1000Genomes NC_000001.10 - 112204423 Oct 11, 2018 (152)
43 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22771657 (NC_000001.11:111661800::A 3051/94870)
Row 22771658 (NC_000001.11:111661800::AA 5/94924)
Row 22771659 (NC_000001.11:111661800::AAA 9/94932)...

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

Submission ignored due to conflicting rows:
Row 22771657 (NC_000001.11:111661800::A 3051/94870)
Row 22771658 (NC_000001.11:111661800::AA 5/94924)
Row 22771659 (NC_000001.11:111661800::AAA 9/94932)...

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

Submission ignored due to conflicting rows:
Row 22771657 (NC_000001.11:111661800::A 3051/94870)
Row 22771658 (NC_000001.11:111661800::AA 5/94924)
Row 22771659 (NC_000001.11:111661800::AAA 9/94932)...

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

Submission ignored due to conflicting rows:
Row 22771657 (NC_000001.11:111661800::A 3051/94870)
Row 22771658 (NC_000001.11:111661800::AA 5/94924)
Row 22771659 (NC_000001.11:111661800::AAA 9/94932)...

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

Submission ignored due to conflicting rows:
Row 22771657 (NC_000001.11:111661800::A 3051/94870)
Row 22771658 (NC_000001.11:111661800::AA 5/94924)
Row 22771659 (NC_000001.11:111661800::AAA 9/94932)...

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

Submission ignored due to conflicting rows:
Row 22771657 (NC_000001.11:111661800::A 3051/94870)
Row 22771658 (NC_000001.11:111661800::AA 5/94924)
Row 22771659 (NC_000001.11:111661800::AAA 9/94932)...

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

Submission ignored due to conflicting rows:
Row 22771657 (NC_000001.11:111661800::A 3051/94870)
Row 22771658 (NC_000001.11:111661800::AA 5/94924)
Row 22771659 (NC_000001.11:111661800::AAA 9/94932)...

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

Submission ignored due to conflicting rows:
Row 22771657 (NC_000001.11:111661800::A 3051/94870)
Row 22771658 (NC_000001.11:111661800::AA 5/94924)
Row 22771659 (NC_000001.11:111661800::AAA 9/94932)...

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

Submission ignored due to conflicting rows:
Row 1630546 (NC_000001.11:111661801:A: 488/1832)
Row 1630547 (NC_000001.11:111661802::A 118/1832)
Row 1630548 (NC_000001.11:111661800:AA: 36/1832)

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

Submission ignored due to conflicting rows:
Row 1630546 (NC_000001.11:111661801:A: 488/1832)
Row 1630547 (NC_000001.11:111661802::A 118/1832)
Row 1630548 (NC_000001.11:111661800:AA: 36/1832)

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

Submission ignored due to conflicting rows:
Row 1630546 (NC_000001.11:111661801:A: 488/1832)
Row 1630547 (NC_000001.11:111661802::A 118/1832)
Row 1630548 (NC_000001.11:111661800:AA: 36/1832)

- Apr 25, 2020 (154)
54 Northern Sweden NC_000001.10 - 112204423 Jul 12, 2019 (153)
55 8.3KJPN

Submission ignored due to conflicting rows:
Row 3662045 (NC_000001.10:112204422:A: 3019/16756)
Row 3662046 (NC_000001.10:112204422:AA: 22/16756)
Row 3662047 (NC_000001.10:112204422::A 17/16756)

- Apr 25, 2021 (155)
56 8.3KJPN

Submission ignored due to conflicting rows:
Row 3662045 (NC_000001.10:112204422:A: 3019/16756)
Row 3662046 (NC_000001.10:112204422:AA: 22/16756)
Row 3662047 (NC_000001.10:112204422::A 17/16756)

- Apr 25, 2021 (155)
57 8.3KJPN

Submission ignored due to conflicting rows:
Row 3662045 (NC_000001.10:112204422:A: 3019/16756)
Row 3662046 (NC_000001.10:112204422:AA: 22/16756)
Row 3662047 (NC_000001.10:112204422::A 17/16756)

- Apr 25, 2021 (155)
58 14KJPN

Submission ignored due to conflicting rows:
Row 4800892 (NC_000001.11:111661800:A: 5201/28256)
Row 4800894 (NC_000001.11:111661800:AA: 34/28256)
Row 4800895 (NC_000001.11:111661800::A 20/28256)...

- Oct 12, 2022 (156)
59 14KJPN

Submission ignored due to conflicting rows:
Row 4800892 (NC_000001.11:111661800:A: 5201/28256)
Row 4800894 (NC_000001.11:111661800:AA: 34/28256)
Row 4800895 (NC_000001.11:111661800::A 20/28256)...

- Oct 12, 2022 (156)
60 14KJPN

Submission ignored due to conflicting rows:
Row 4800892 (NC_000001.11:111661800:A: 5201/28256)
Row 4800894 (NC_000001.11:111661800:AA: 34/28256)
Row 4800895 (NC_000001.11:111661800::A 20/28256)...

- Oct 12, 2022 (156)
61 14KJPN

Submission ignored due to conflicting rows:
Row 4800892 (NC_000001.11:111661800:A: 5201/28256)
Row 4800894 (NC_000001.11:111661800:AA: 34/28256)
Row 4800895 (NC_000001.11:111661800::A 20/28256)...

- Oct 12, 2022 (156)
62 TopMed NC_000001.11 - 111661801 Apr 25, 2021 (155)
63 ALFA NC_000001.11 - 111661801 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)
rs11350704 May 11, 2012 (137)
rs34417869 May 11, 2012 (137)
rs60930410 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
27312486, ss3687536073, ss4463706151 NC_000001.11:111661800:AAAAAAAA: NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
4306296607 NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss4000487388 NC_000001.11:111661800:AAAAA: NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4000487387 NC_000001.11:111661800:AAAA: NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4000487386, ss5670963792 NC_000001.11:111661800:AAA: NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
4306296607 NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3687536072 NC_000001.11:111661805:AAA: NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss2987443096, ss5145692739 NC_000001.10:112204422:AA: NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3945252547, ss4000487385, ss5243618691, ss5444541771, ss5670963790 NC_000001.11:111661800:AA: NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
4306296607 NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3687536071 NC_000001.11:111661806:AA: NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss103489188 NT_032977.9:82176355:AA: NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss80333583 NC_000001.8:111916480:A: NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
3220536, 676450, ss1367817169, ss3727391585, ss3826371339, ss3836577222, ss5145692738 NC_000001.10:112204422:A: NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3063603654, ss3799679272, ss3841985608, ss5243618689, ss5444541770, ss5670963788, ss5849069309 NC_000001.11:111661800:A: NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
4306296607 NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3945252545 NC_000001.11:111661801:A: NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3687536070 NC_000001.11:111661807:A: NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss41184127 NT_032977.9:82176340:A: NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5145692740 NC_000001.10:112204422::A NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4000487382, ss5243618690, ss5444541772, ss5670963791 NC_000001.11:111661800::A NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
4306296607 NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3945252546 NC_000001.11:111661802::A NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3687536069 NC_000001.11:111661808::A NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4000487383 NC_000001.11:111661800::AA NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
4306296607 NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4000487384 NC_000001.11:111661800::AAA NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
4306296607 NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000001.11:111661800:AAAAAAAAAAA…

NC_000001.11:111661800:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(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 rs11322950

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