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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.

rs36059851

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:34062625-34062642 (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)10 / del(A)9 / del(A)6 / del…

del(A)10 / del(A)9 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dup(A)7 / ins(A)6C(A)22

Variation Type
Indel Insertion and Deletion
Frequency
del(A)9=0.0 (0/6, ALFA)
del(A)6=0.0 (0/6, ALFA)
del(A)5=0.0 (0/6, ALFA) (+ 5 more)
delAAA=0.0 (0/6, ALFA)
delAA=0.0 (0/6, ALFA)
delA=0.0 (0/6, ALFA)
dupA=0.0 (0/6, ALFA)
dup(A)7=0.0 (0/6, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CAPRIN1 : Intron Variant
LOC124902660 : 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 6 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
European Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
African Sub 6 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African Others Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
African American Sub 6 AAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
East Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 2 Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
South Asian Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Sub 0 AAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=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
Allele Frequency Aggregator Total Global 6 (A)18=1.0 del(A)9=0.0, del(A)6=0.0, del(A)5=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dup(A)7=0.0
Allele Frequency Aggregator African Sub 6 (A)18=1.0 del(A)9=0.0, del(A)6=0.0, del(A)5=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dup(A)7=0.0
Allele Frequency Aggregator European Sub 0 (A)18=0 del(A)9=0, del(A)6=0, del(A)5=0, delAAA=0, delAA=0, delA=0, dupA=0, dup(A)7=0
Allele Frequency Aggregator Latin American 1 Sub 0 (A)18=0 del(A)9=0, del(A)6=0, del(A)5=0, delAAA=0, delAA=0, delA=0, dupA=0, dup(A)7=0
Allele Frequency Aggregator Latin American 2 Sub 0 (A)18=0 del(A)9=0, del(A)6=0, del(A)5=0, delAAA=0, delAA=0, delA=0, dupA=0, dup(A)7=0
Allele Frequency Aggregator South Asian Sub 0 (A)18=0 del(A)9=0, del(A)6=0, del(A)5=0, delAAA=0, delAA=0, delA=0, dupA=0, dup(A)7=0
Allele Frequency Aggregator Other Sub 0 (A)18=0 del(A)9=0, del(A)6=0, del(A)5=0, delAAA=0, delAA=0, delA=0, dupA=0, dup(A)7=0
Allele Frequency Aggregator Asian Sub 0 (A)18=0 del(A)9=0, del(A)6=0, del(A)5=0, delAAA=0, delAA=0, delA=0, dupA=0, dup(A)7=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 11 NC_000011.10:g.34062633_34062642del
GRCh38.p14 chr 11 NC_000011.10:g.34062634_34062642del
GRCh38.p14 chr 11 NC_000011.10:g.34062637_34062642del
GRCh38.p14 chr 11 NC_000011.10:g.34062638_34062642del
GRCh38.p14 chr 11 NC_000011.10:g.34062639_34062642del
GRCh38.p14 chr 11 NC_000011.10:g.34062640_34062642del
GRCh38.p14 chr 11 NC_000011.10:g.34062641_34062642del
GRCh38.p14 chr 11 NC_000011.10:g.34062642del
GRCh38.p14 chr 11 NC_000011.10:g.34062642dup
GRCh38.p14 chr 11 NC_000011.10:g.34062636_34062642dup
GRCh38.p14 chr 11 NC_000011.10:g.34062625_34062642A[24]CAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 11 NC_000011.9:g.34084180_34084189del
GRCh37.p13 chr 11 NC_000011.9:g.34084181_34084189del
GRCh37.p13 chr 11 NC_000011.9:g.34084184_34084189del
GRCh37.p13 chr 11 NC_000011.9:g.34084185_34084189del
GRCh37.p13 chr 11 NC_000011.9:g.34084186_34084189del
GRCh37.p13 chr 11 NC_000011.9:g.34084187_34084189del
GRCh37.p13 chr 11 NC_000011.9:g.34084188_34084189del
GRCh37.p13 chr 11 NC_000011.9:g.34084189del
GRCh37.p13 chr 11 NC_000011.9:g.34084189dup
GRCh37.p13 chr 11 NC_000011.9:g.34084183_34084189dup
GRCh37.p13 chr 11 NC_000011.9:g.34084172_34084189A[24]CAAAAAAAAAAAAAAAAAAAAAA[1]
Gene: CAPRIN1, cell cycle associated protein 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CAPRIN1 transcript variant 1 NM_005898.5:c.217-9093_21…

NM_005898.5:c.217-9093_217-9084del

N/A Intron Variant
CAPRIN1 transcript variant 2 NM_203364.3:c.217-9093_21…

NM_203364.3:c.217-9093_217-9084del

N/A Intron Variant
CAPRIN1 transcript variant X2 XM_047426959.1:c.217-9093…

XM_047426959.1:c.217-9093_217-9084del

N/A Intron Variant
CAPRIN1 transcript variant X1 XM_047426960.1:c.217-9093…

XM_047426960.1:c.217-9093_217-9084del

N/A Intron Variant
CAPRIN1 transcript variant X3 XM_047426961.1:c.217-9093…

XM_047426961.1:c.217-9093_217-9084del

N/A Intron Variant
Gene: LOC124902660, uncharacterized LOC124902660 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC124902660 transcript variant X1 XR_007062651.1:n. 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)18= del(A)10 del(A)9 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dup(A)7 ins(A)6C(A)22
GRCh38.p14 chr 11 NC_000011.10:g.34062625_34062642= NC_000011.10:g.34062633_34062642del NC_000011.10:g.34062634_34062642del NC_000011.10:g.34062637_34062642del NC_000011.10:g.34062638_34062642del NC_000011.10:g.34062639_34062642del NC_000011.10:g.34062640_34062642del NC_000011.10:g.34062641_34062642del NC_000011.10:g.34062642del NC_000011.10:g.34062642dup NC_000011.10:g.34062636_34062642dup NC_000011.10:g.34062625_34062642A[24]CAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 11 NC_000011.9:g.34084172_34084189= NC_000011.9:g.34084180_34084189del NC_000011.9:g.34084181_34084189del NC_000011.9:g.34084184_34084189del NC_000011.9:g.34084185_34084189del NC_000011.9:g.34084186_34084189del NC_000011.9:g.34084187_34084189del NC_000011.9:g.34084188_34084189del NC_000011.9:g.34084189del NC_000011.9:g.34084189dup NC_000011.9:g.34084183_34084189dup NC_000011.9:g.34084172_34084189A[24]CAAAAAAAAAAAAAAAAAAAAAA[1]
CAPRIN1 transcript variant 1 NM_005898.4:c.217-9101= NM_005898.4:c.217-9093_217-9084del NM_005898.4:c.217-9092_217-9084del NM_005898.4:c.217-9089_217-9084del NM_005898.4:c.217-9088_217-9084del NM_005898.4:c.217-9087_217-9084del NM_005898.4:c.217-9086_217-9084del NM_005898.4:c.217-9085_217-9084del NM_005898.4:c.217-9084del NM_005898.4:c.217-9084dup NM_005898.4:c.217-9090_217-9084dup NM_005898.4:c.217-9084_217-9083insAAAAAACAAAAAAAAAAAAAAAAAAAAAA
CAPRIN1 transcript variant 1 NM_005898.5:c.217-9101= NM_005898.5:c.217-9093_217-9084del NM_005898.5:c.217-9092_217-9084del NM_005898.5:c.217-9089_217-9084del NM_005898.5:c.217-9088_217-9084del NM_005898.5:c.217-9087_217-9084del NM_005898.5:c.217-9086_217-9084del NM_005898.5:c.217-9085_217-9084del NM_005898.5:c.217-9084del NM_005898.5:c.217-9084dup NM_005898.5:c.217-9090_217-9084dup NM_005898.5:c.217-9084_217-9083insAAAAAACAAAAAAAAAAAAAAAAAAAAAA
CAPRIN1 transcript variant 2 NM_203364.2:c.217-9101= NM_203364.2:c.217-9093_217-9084del NM_203364.2:c.217-9092_217-9084del NM_203364.2:c.217-9089_217-9084del NM_203364.2:c.217-9088_217-9084del NM_203364.2:c.217-9087_217-9084del NM_203364.2:c.217-9086_217-9084del NM_203364.2:c.217-9085_217-9084del NM_203364.2:c.217-9084del NM_203364.2:c.217-9084dup NM_203364.2:c.217-9090_217-9084dup NM_203364.2:c.217-9084_217-9083insAAAAAACAAAAAAAAAAAAAAAAAAAAAA
CAPRIN1 transcript variant 2 NM_203364.3:c.217-9101= NM_203364.3:c.217-9093_217-9084del NM_203364.3:c.217-9092_217-9084del NM_203364.3:c.217-9089_217-9084del NM_203364.3:c.217-9088_217-9084del NM_203364.3:c.217-9087_217-9084del NM_203364.3:c.217-9086_217-9084del NM_203364.3:c.217-9085_217-9084del NM_203364.3:c.217-9084del NM_203364.3:c.217-9084dup NM_203364.3:c.217-9090_217-9084dup NM_203364.3:c.217-9084_217-9083insAAAAAACAAAAAAAAAAAAAAAAAAAAAA
CAPRIN1 transcript variant X1 XM_005252931.1:c.217-9101= XM_005252931.1:c.217-9093_217-9084del XM_005252931.1:c.217-9092_217-9084del XM_005252931.1:c.217-9089_217-9084del XM_005252931.1:c.217-9088_217-9084del XM_005252931.1:c.217-9087_217-9084del XM_005252931.1:c.217-9086_217-9084del XM_005252931.1:c.217-9085_217-9084del XM_005252931.1:c.217-9084del XM_005252931.1:c.217-9084dup XM_005252931.1:c.217-9090_217-9084dup XM_005252931.1:c.217-9084_217-9083insAAAAAACAAAAAAAAAAAAAAAAAAAAAA
CAPRIN1 transcript variant X2 XM_005252932.1:c.-27-9101= XM_005252932.1:c.-27-9093_-27-9084del XM_005252932.1:c.-27-9092_-27-9084del XM_005252932.1:c.-27-9089_-27-9084del XM_005252932.1:c.-27-9088_-27-9084del XM_005252932.1:c.-27-9087_-27-9084del XM_005252932.1:c.-27-9086_-27-9084del XM_005252932.1:c.-27-9085_-27-9084del XM_005252932.1:c.-27-9084del XM_005252932.1:c.-27-9084dup XM_005252932.1:c.-27-9090_-27-9084dup XM_005252932.1:c.-27-9084_-27-9083insAAAAAACAAAAAAAAAAAAAAAAAAAAAA
CAPRIN1 transcript variant X2 XM_047426959.1:c.217-9101= XM_047426959.1:c.217-9093_217-9084del XM_047426959.1:c.217-9092_217-9084del XM_047426959.1:c.217-9089_217-9084del XM_047426959.1:c.217-9088_217-9084del XM_047426959.1:c.217-9087_217-9084del XM_047426959.1:c.217-9086_217-9084del XM_047426959.1:c.217-9085_217-9084del XM_047426959.1:c.217-9084del XM_047426959.1:c.217-9084dup XM_047426959.1:c.217-9090_217-9084dup XM_047426959.1:c.217-9084_217-9083insAAAAAACAAAAAAAAAAAAAAAAAAAAAA
CAPRIN1 transcript variant X1 XM_047426960.1:c.217-9101= XM_047426960.1:c.217-9093_217-9084del XM_047426960.1:c.217-9092_217-9084del XM_047426960.1:c.217-9089_217-9084del XM_047426960.1:c.217-9088_217-9084del XM_047426960.1:c.217-9087_217-9084del XM_047426960.1:c.217-9086_217-9084del XM_047426960.1:c.217-9085_217-9084del XM_047426960.1:c.217-9084del XM_047426960.1:c.217-9084dup XM_047426960.1:c.217-9090_217-9084dup XM_047426960.1:c.217-9084_217-9083insAAAAAACAAAAAAAAAAAAAAAAAAAAAA
CAPRIN1 transcript variant X3 XM_047426961.1:c.217-9101= XM_047426961.1:c.217-9093_217-9084del XM_047426961.1:c.217-9092_217-9084del XM_047426961.1:c.217-9089_217-9084del XM_047426961.1:c.217-9088_217-9084del XM_047426961.1:c.217-9087_217-9084del XM_047426961.1:c.217-9086_217-9084del XM_047426961.1:c.217-9085_217-9084del XM_047426961.1:c.217-9084del XM_047426961.1:c.217-9084dup XM_047426961.1:c.217-9090_217-9084dup XM_047426961.1:c.217-9084_217-9083insAAAAAACAAAAAAAAAAAAAAAAAAAAAA
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#.

50 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss40065163 Dec 03, 2013 (138)
2 HUMANGENOME_JCVI ss95565418 Dec 05, 2013 (138)
3 GMI ss289062815 May 04, 2012 (137)
4 PJP ss294697655 May 09, 2011 (134)
5 SSMP ss664047630 Apr 01, 2015 (144)
6 EVA_UK10K_ALSPAC ss1707060962 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1707061261 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1710508578 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1710508580 Apr 01, 2015 (144)
10 EVA_UK10K_ALSPAC ss1710508590 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1710508592 Apr 01, 2015 (144)
12 HAMMER_LAB ss1806768615 Sep 08, 2015 (146)
13 SYSTEMSBIOZJU ss2627784462 Nov 08, 2017 (151)
14 SWEGEN ss3007867716 Nov 08, 2017 (151)
15 URBANLAB ss3649577409 Oct 12, 2018 (152)
16 EVA_DECODE ss3691543906 Jul 13, 2019 (153)
17 EVA_DECODE ss3691543907 Jul 13, 2019 (153)
18 EVA_DECODE ss3691543908 Jul 13, 2019 (153)
19 EVA_DECODE ss3691543909 Jul 13, 2019 (153)
20 EVA_DECODE ss3691543910 Jul 13, 2019 (153)
21 ACPOP ss3738071966 Jul 13, 2019 (153)
22 ACPOP ss3738071967 Jul 13, 2019 (153)
23 PACBIO ss3786919738 Jul 13, 2019 (153)
24 PACBIO ss3792066688 Jul 13, 2019 (153)
25 PACBIO ss3796948842 Jul 13, 2019 (153)
26 EVA ss3832568441 Apr 26, 2020 (154)
27 GNOMAD ss4232950525 Apr 26, 2021 (155)
28 GNOMAD ss4232950526 Apr 26, 2021 (155)
29 GNOMAD ss4232950527 Apr 26, 2021 (155)
30 GNOMAD ss4232950528 Apr 26, 2021 (155)
31 GNOMAD ss4232950529 Apr 26, 2021 (155)
32 GNOMAD ss4232950530 Apr 26, 2021 (155)
33 GNOMAD ss4232950531 Apr 26, 2021 (155)
34 GNOMAD ss4232950532 Apr 26, 2021 (155)
35 GNOMAD ss4232950533 Apr 26, 2021 (155)
36 TOMMO_GENOMICS ss5201425862 Apr 26, 2021 (155)
37 TOMMO_GENOMICS ss5201425863 Apr 26, 2021 (155)
38 1000G_HIGH_COVERAGE ss5286979659 Oct 16, 2022 (156)
39 1000G_HIGH_COVERAGE ss5286979660 Oct 16, 2022 (156)
40 HUGCELL_USP ss5482223380 Oct 16, 2022 (156)
41 HUGCELL_USP ss5482223381 Oct 16, 2022 (156)
42 TOMMO_GENOMICS ss5748390466 Oct 16, 2022 (156)
43 TOMMO_GENOMICS ss5748390467 Oct 16, 2022 (156)
44 TOMMO_GENOMICS ss5748390468 Oct 16, 2022 (156)
45 EVA ss5836490666 Oct 16, 2022 (156)
46 EVA ss5836490667 Oct 16, 2022 (156)
47 EVA ss5836490668 Oct 16, 2022 (156)
48 EVA ss5849932220 Oct 16, 2022 (156)
49 EVA ss5919494009 Oct 16, 2022 (156)
50 EVA ss5980670156 Oct 16, 2022 (156)
51 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 29602849 (NC_000011.9:34084172:A: 770/3854)
Row 29602850 (NC_000011.9:34084171:AAA: 90/3854)

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

Submission ignored due to conflicting rows:
Row 29602849 (NC_000011.9:34084172:A: 770/3854)
Row 29602850 (NC_000011.9:34084171:AAA: 90/3854)

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

Submission ignored due to conflicting rows:
Row 376153314 (NC_000011.10:34062624::A 11/91758)
Row 376153315 (NC_000011.10:34062624::AAAAAAAAAAAAAAAAAAAAAAAACAAAA 1/91780)
Row 376153316 (NC_000011.10:34062624:A: 73839/91580)...

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

Submission ignored due to conflicting rows:
Row 376153314 (NC_000011.10:34062624::A 11/91758)
Row 376153315 (NC_000011.10:34062624::AAAAAAAAAAAAAAAAAAAAAAAACAAAA 1/91780)
Row 376153316 (NC_000011.10:34062624:A: 73839/91580)...

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

Submission ignored due to conflicting rows:
Row 376153314 (NC_000011.10:34062624::A 11/91758)
Row 376153315 (NC_000011.10:34062624::AAAAAAAAAAAAAAAAAAAAAAAACAAAA 1/91780)
Row 376153316 (NC_000011.10:34062624:A: 73839/91580)...

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

Submission ignored due to conflicting rows:
Row 376153314 (NC_000011.10:34062624::A 11/91758)
Row 376153315 (NC_000011.10:34062624::AAAAAAAAAAAAAAAAAAAAAAAACAAAA 1/91780)
Row 376153316 (NC_000011.10:34062624:A: 73839/91580)...

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

Submission ignored due to conflicting rows:
Row 376153314 (NC_000011.10:34062624::A 11/91758)
Row 376153315 (NC_000011.10:34062624::AAAAAAAAAAAAAAAAAAAAAAAACAAAA 1/91780)
Row 376153316 (NC_000011.10:34062624:A: 73839/91580)...

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

Submission ignored due to conflicting rows:
Row 376153314 (NC_000011.10:34062624::A 11/91758)
Row 376153315 (NC_000011.10:34062624::AAAAAAAAAAAAAAAAAAAAAAAACAAAA 1/91780)
Row 376153316 (NC_000011.10:34062624:A: 73839/91580)...

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

Submission ignored due to conflicting rows:
Row 376153314 (NC_000011.10:34062624::A 11/91758)
Row 376153315 (NC_000011.10:34062624::AAAAAAAAAAAAAAAAAAAAAAAACAAAA 1/91780)
Row 376153316 (NC_000011.10:34062624:A: 73839/91580)...

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

Submission ignored due to conflicting rows:
Row 376153314 (NC_000011.10:34062624::A 11/91758)
Row 376153315 (NC_000011.10:34062624::AAAAAAAAAAAAAAAAAAAAAAAACAAAA 1/91780)
Row 376153316 (NC_000011.10:34062624:A: 73839/91580)...

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

Submission ignored due to conflicting rows:
Row 376153314 (NC_000011.10:34062624::A 11/91758)
Row 376153315 (NC_000011.10:34062624::AAAAAAAAAAAAAAAAAAAAAAAACAAAA 1/91780)
Row 376153316 (NC_000011.10:34062624:A: 73839/91580)...

- Apr 26, 2021 (155)
62 Northern Sweden

Submission ignored due to conflicting rows:
Row 11356831 (NC_000011.9:34084171:AA: 36/516)
Row 11356832 (NC_000011.9:34084171:A: 360/516)

- Jul 13, 2019 (153)
63 Northern Sweden

Submission ignored due to conflicting rows:
Row 11356831 (NC_000011.9:34084171:AA: 36/516)
Row 11356832 (NC_000011.9:34084171:A: 360/516)

- Jul 13, 2019 (153)
64 8.3KJPN

Submission ignored due to conflicting rows:
Row 59395169 (NC_000011.9:34084171:A: 16160/16584)
Row 59395170 (NC_000011.9:34084171:AA: 39/16584)

- Apr 26, 2021 (155)
65 8.3KJPN

Submission ignored due to conflicting rows:
Row 59395169 (NC_000011.9:34084171:A: 16160/16584)
Row 59395170 (NC_000011.9:34084171:AA: 39/16584)

- Apr 26, 2021 (155)
66 14KJPN

Submission ignored due to conflicting rows:
Row 82227570 (NC_000011.10:34062624:A: 27618/28216)
Row 82227571 (NC_000011.10:34062624:AA: 54/28216)
Row 82227572 (NC_000011.10:34062624::A 2/28216)

- Oct 16, 2022 (156)
67 14KJPN

Submission ignored due to conflicting rows:
Row 82227570 (NC_000011.10:34062624:A: 27618/28216)
Row 82227571 (NC_000011.10:34062624:AA: 54/28216)
Row 82227572 (NC_000011.10:34062624::A 2/28216)

- Oct 16, 2022 (156)
68 14KJPN

Submission ignored due to conflicting rows:
Row 82227570 (NC_000011.10:34062624:A: 27618/28216)
Row 82227571 (NC_000011.10:34062624:AA: 54/28216)
Row 82227572 (NC_000011.10:34062624::A 2/28216)

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

Submission ignored due to conflicting rows:
Row 29602848 (NC_000011.9:34084173:A: 2826/3708)
Row 29602849 (NC_000011.9:34084172:AA: 811/3708)
Row 29602850 (NC_000011.9:34084171:AAA: 69/3708)

- Apr 26, 2020 (154)
70 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 29602849 (NC_000011.9:34084172:A: 811/3708)
Row 29602850 (NC_000011.9:34084171:AAA: 69/3708)

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

Submission ignored due to conflicting rows:
Row 29602849 (NC_000011.9:34084172:A: 811/3708)
Row 29602850 (NC_000011.9:34084171:AAA: 69/3708)

- Oct 12, 2018 (152)
72 ALFA NC_000011.10 - 34062625 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)
rs72340716 May 11, 2012 (137)
rs200412082 May 11, 2012 (137)
rs370982201 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4232950533 NC_000011.10:34062624:AAAAAAAAAA: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
ss4232950532 NC_000011.10:34062624:AAAAAAAAA: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
5249183612 NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss4232950531 NC_000011.10:34062624:AAAAAA: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
5249183612 NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3691543910, ss4232950530 NC_000011.10:34062624:AAAAA: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
5249183612 NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4232950529 NC_000011.10:34062624:AAAA: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3691543909 NC_000011.10:34062625:AAAA: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss1707060962, ss1707061261, ss5836490668 NC_000011.9:34084171:AAA: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4232950528 NC_000011.10:34062624:AAA: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
5249183612 NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3691543908 NC_000011.10:34062626:AAA: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3007867716, ss3738071966, ss3832568441, ss5201425863, ss5836490667 NC_000011.9:34084171:AA: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss1710508580, ss1710508592 NC_000011.9:34084172:AA: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5286979660, ss5482223381, ss5748390467 NC_000011.10:34062624:AA: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
5249183612 NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3691543907 NC_000011.10:34062627:AA: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss289062815 NC_000011.8:34040747:A: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss294697655 NC_000011.8:34040764:A: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss664047630, ss1806768615, ss2627784462, ss3738071967, ss3786919738, ss3792066688, ss3796948842, ss5201425862, ss5836490666, ss5980670156 NC_000011.9:34084171:A: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
NC_000011.9:34084172:A: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss1710508578, ss1710508590 NC_000011.9:34084173:A: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3649577409, ss4232950527, ss5286979659, ss5482223380, ss5748390466, ss5849932220, ss5919494009 NC_000011.10:34062624:A: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
5249183612 NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3691543906 NC_000011.10:34062628:A: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss40065163, ss95565418 NT_009237.18:34024188:A: NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4232950525, ss5748390468 NC_000011.10:34062624::A NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
5249183612 NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
5249183612 NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4232950526 NC_000011.10:34062624::AAAAAAAAAAA…

NC_000011.10:34062624::AAAAAAAAAAAAAAAAAAAAAAAACAAAA

NC_000011.10:34062624:AAAAAAAAAAAA…

NC_000011.10:34062624:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAA

(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 rs36059851

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