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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.

rs71102626

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:69095551-69095565 (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
delCACA / delCA / dupCA / dupCACA …

delCACA / delCA / dupCA / dupCACA / dup(CA)3

Variation Type
Indel Insertion and Deletion
Frequency
(AC)7A=0.08884 (1489/16760, 8.3KJPN)
dupCA=0.14784 (1578/10674, ALFA)
dupCA=0.4271 (2139/5008, 1000G) (+ 4 more)
dupCA=0.3502 (1569/4480, Estonian)
dupCA=0.299 (298/998, GoNL)
dupCA=0.387 (232/600, NorthernSweden)
dupCA=0.38 (15/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DCAF5 : 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 10674 ACACACACACACACA=0.85216 ACACACACACA=0.00000, ACACACACACACA=0.00000, ACACACACACACACACA=0.14784, ACACACACACACACACACA=0.00000, ACACACACACACACACACACA=0.00000 0.760352 0.056024 0.183624 32
European Sub 7946 ACACACACACACACA=0.8018 ACACACACACA=0.0000, ACACACACACACA=0.0000, ACACACACACACACACA=0.1982, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000 0.67858 0.075006 0.246413 32
African Sub 2270 ACACACACACACACA=1.0000 ACACACACACA=0.0000, ACACACACACACA=0.0000, ACACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 106 ACACACACACACACA=1.000 ACACACACACA=0.000, ACACACACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000 1.0 0.0 0.0 N/A
African American Sub 2164 ACACACACACACACA=1.0000 ACACACACACA=0.0000, ACACACACACACA=0.0000, ACACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 0 ACACACACACACACA=0 ACACACACACA=0, ACACACACACACA=0, ACACACACACACACACA=0, ACACACACACACACACACA=0, ACACACACACACACACACACA=0 0 0 0 N/A
East Asian Sub 0 ACACACACACACACA=0 ACACACACACA=0, ACACACACACACA=0, ACACACACACACACACA=0, ACACACACACACACACACA=0, ACACACACACACACACACACA=0 0 0 0 N/A
Other Asian Sub 0 ACACACACACACACA=0 ACACACACACA=0, ACACACACACACA=0, ACACACACACACACACA=0, ACACACACACACACACACA=0, ACACACACACACACACACACA=0 0 0 0 N/A
Latin American 1 Sub 68 ACACACACACACACA=1.00 ACACACACACA=0.00, ACACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 126 ACACACACACACACA=1.000 ACACACACACA=0.000, ACACACACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 26 ACACACACACACACA=1.00 ACACACACACA=0.00, ACACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Other Sub 238 ACACACACACACACA=0.987 ACACACACACA=0.000, ACACACACACACA=0.000, ACACACACACACACACA=0.013, ACACACACACACACACACA=0.000, ACACACACACACACACACACA=0.000 0.983193 0.008403 0.008403 28


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
8.3KJPN JAPANESE Study-wide 16760 -

No frequency provided

dupCA=0.91116
Allele Frequency Aggregator Total Global 10674 (AC)7A=0.85216 delCACA=0.00000, delCA=0.00000, dupCA=0.14784, dupCACA=0.00000, dup(CA)3=0.00000
Allele Frequency Aggregator European Sub 7946 (AC)7A=0.8018 delCACA=0.0000, delCA=0.0000, dupCA=0.1982, dupCACA=0.0000, dup(CA)3=0.0000
Allele Frequency Aggregator African Sub 2270 (AC)7A=1.0000 delCACA=0.0000, delCA=0.0000, dupCA=0.0000, dupCACA=0.0000, dup(CA)3=0.0000
Allele Frequency Aggregator Other Sub 238 (AC)7A=0.987 delCACA=0.000, delCA=0.000, dupCA=0.013, dupCACA=0.000, dup(CA)3=0.000
Allele Frequency Aggregator Latin American 2 Sub 126 (AC)7A=1.000 delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)3=0.000
Allele Frequency Aggregator Latin American 1 Sub 68 (AC)7A=1.00 delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)3=0.00
Allele Frequency Aggregator South Asian Sub 26 (AC)7A=1.00 delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)3=0.00
Allele Frequency Aggregator Asian Sub 0 (AC)7A=0 delCACA=0, delCA=0, dupCA=0, dupCACA=0, dup(CA)3=0
1000Genomes Global Study-wide 5008 -

No frequency provided

dupCA=0.4271
1000Genomes African Sub 1322 -

No frequency provided

dupCA=0.0582
1000Genomes East Asian Sub 1008 -

No frequency provided

dupCA=0.8690
1000Genomes Europe Sub 1006 -

No frequency provided

dupCA=0.3191
1000Genomes South Asian Sub 978 -

No frequency provided

dupCA=0.488
1000Genomes American Sub 694 -

No frequency provided

dupCA=0.559
Genetic variation in the Estonian population Estonian Study-wide 4480 -

No frequency provided

dupCA=0.3502
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 -

No frequency provided

dupCA=0.299
Northern Sweden ACPOP Study-wide 600 -

No frequency provided

dupCA=0.387
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dupCA=0.38
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 14 NC_000014.9:g.69095552CA[5]
GRCh38.p14 chr 14 NC_000014.9:g.69095552CA[6]
GRCh38.p14 chr 14 NC_000014.9:g.69095552CA[8]
GRCh38.p14 chr 14 NC_000014.9:g.69095552CA[9]
GRCh38.p14 chr 14 NC_000014.9:g.69095552CA[10]
GRCh37.p13 chr 14 NC_000014.8:g.69562269CA[5]
GRCh37.p13 chr 14 NC_000014.8:g.69562269CA[6]
GRCh37.p13 chr 14 NC_000014.8:g.69562269CA[8]
GRCh37.p13 chr 14 NC_000014.8:g.69562269CA[9]
GRCh37.p13 chr 14 NC_000014.8:g.69562269CA[10]
Gene: DCAF5, DDB1 and CUL4 associated factor 5 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DCAF5 transcript variant 2 NM_001284206.1:c.663-3677…

NM_001284206.1:c.663-3677GT[5]

N/A Intron Variant
DCAF5 transcript variant 3 NM_001284207.1:c.420-3677…

NM_001284207.1:c.420-3677GT[5]

N/A Intron Variant
DCAF5 transcript variant 4 NM_001284208.2:c.666-3677…

NM_001284208.2:c.666-3677GT[5]

N/A Intron Variant
DCAF5 transcript variant 1 NM_003861.3:c.666-3677GT[…

NM_003861.3:c.666-3677GT[5]

N/A Intron Variant
DCAF5 transcript variant X1 XM_006720297.3:c.666-3677…

XM_006720297.3:c.666-3677GT[5]

N/A Intron Variant
DCAF5 transcript variant X2 XM_006720298.3:c.663-3677…

XM_006720298.3:c.663-3677GT[5]

N/A Intron Variant
DCAF5 transcript variant X3 XM_006720299.4:c.420-3677…

XM_006720299.4:c.420-3677GT[5]

N/A Intron Variant
DCAF5 transcript variant X7 XM_011537278.2:c.420-3677…

XM_011537278.2:c.420-3677GT[5]

N/A Intron Variant
DCAF5 transcript variant X4 XM_011537279.3:c.420-3677…

XM_011537279.3:c.420-3677GT[5]

N/A Intron Variant
DCAF5 transcript variant X9 XM_011537280.4:c.15-3677G…

XM_011537280.4:c.15-3677GT[5]

N/A Intron Variant
DCAF5 transcript variant X5 XM_017021733.2:c.420-3677…

XM_017021733.2:c.420-3677GT[5]

N/A Intron Variant
DCAF5 transcript variant X10 XM_017021737.2:c.15-3677G…

XM_017021737.2:c.15-3677GT[5]

N/A Intron Variant
DCAF5 transcript variant X6 XM_047431846.1:c.420-3677…

XM_047431846.1:c.420-3677GT[5]

N/A Intron Variant
DCAF5 transcript variant X8 XM_047431847.1:c.420-3677…

XM_047431847.1:c.420-3677GT[5]

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 (AC)7A= delCACA delCA dupCA dupCACA dup(CA)3
GRCh38.p14 chr 14 NC_000014.9:g.69095551_69095565= NC_000014.9:g.69095552CA[5] NC_000014.9:g.69095552CA[6] NC_000014.9:g.69095552CA[8] NC_000014.9:g.69095552CA[9] NC_000014.9:g.69095552CA[10]
GRCh37.p13 chr 14 NC_000014.8:g.69562268_69562282= NC_000014.8:g.69562269CA[5] NC_000014.8:g.69562269CA[6] NC_000014.8:g.69562269CA[8] NC_000014.8:g.69562269CA[9] NC_000014.8:g.69562269CA[10]
DCAF5 transcript variant 2 NM_001284206.1:c.663-3664= NM_001284206.1:c.663-3677GT[5] NM_001284206.1:c.663-3677GT[6] NM_001284206.1:c.663-3677GT[8] NM_001284206.1:c.663-3677GT[9] NM_001284206.1:c.663-3677GT[10]
DCAF5 transcript variant 3 NM_001284207.1:c.420-3664= NM_001284207.1:c.420-3677GT[5] NM_001284207.1:c.420-3677GT[6] NM_001284207.1:c.420-3677GT[8] NM_001284207.1:c.420-3677GT[9] NM_001284207.1:c.420-3677GT[10]
DCAF5 transcript variant 4 NM_001284208.2:c.666-3664= NM_001284208.2:c.666-3677GT[5] NM_001284208.2:c.666-3677GT[6] NM_001284208.2:c.666-3677GT[8] NM_001284208.2:c.666-3677GT[9] NM_001284208.2:c.666-3677GT[10]
DCAF5 transcript variant 1 NM_003861.2:c.666-3664= NM_003861.2:c.666-3677GT[5] NM_003861.2:c.666-3677GT[6] NM_003861.2:c.666-3677GT[8] NM_003861.2:c.666-3677GT[9] NM_003861.2:c.666-3677GT[10]
DCAF5 transcript variant 1 NM_003861.3:c.666-3664= NM_003861.3:c.666-3677GT[5] NM_003861.3:c.666-3677GT[6] NM_003861.3:c.666-3677GT[8] NM_003861.3:c.666-3677GT[9] NM_003861.3:c.666-3677GT[10]
DCAF5 transcript variant X1 XM_005268161.1:c.663-3664= XM_005268161.1:c.663-3677GT[5] XM_005268161.1:c.663-3677GT[6] XM_005268161.1:c.663-3677GT[8] XM_005268161.1:c.663-3677GT[9] XM_005268161.1:c.663-3677GT[10]
DCAF5 transcript variant X2 XM_005268162.1:c.420-3664= XM_005268162.1:c.420-3677GT[5] XM_005268162.1:c.420-3677GT[6] XM_005268162.1:c.420-3677GT[8] XM_005268162.1:c.420-3677GT[9] XM_005268162.1:c.420-3677GT[10]
DCAF5 transcript variant X4 XM_005268164.1:c.-233-3664= XM_005268164.1:c.-233-3677GT[5] XM_005268164.1:c.-233-3677GT[6] XM_005268164.1:c.-233-3677GT[8] XM_005268164.1:c.-233-3677GT[9] XM_005268164.1:c.-233-3677GT[10]
DCAF5 transcript variant X1 XM_006720297.3:c.666-3664= XM_006720297.3:c.666-3677GT[5] XM_006720297.3:c.666-3677GT[6] XM_006720297.3:c.666-3677GT[8] XM_006720297.3:c.666-3677GT[9] XM_006720297.3:c.666-3677GT[10]
DCAF5 transcript variant X2 XM_006720298.3:c.663-3664= XM_006720298.3:c.663-3677GT[5] XM_006720298.3:c.663-3677GT[6] XM_006720298.3:c.663-3677GT[8] XM_006720298.3:c.663-3677GT[9] XM_006720298.3:c.663-3677GT[10]
DCAF5 transcript variant X3 XM_006720299.4:c.420-3664= XM_006720299.4:c.420-3677GT[5] XM_006720299.4:c.420-3677GT[6] XM_006720299.4:c.420-3677GT[8] XM_006720299.4:c.420-3677GT[9] XM_006720299.4:c.420-3677GT[10]
DCAF5 transcript variant X7 XM_011537278.2:c.420-3664= XM_011537278.2:c.420-3677GT[5] XM_011537278.2:c.420-3677GT[6] XM_011537278.2:c.420-3677GT[8] XM_011537278.2:c.420-3677GT[9] XM_011537278.2:c.420-3677GT[10]
DCAF5 transcript variant X4 XM_011537279.3:c.420-3664= XM_011537279.3:c.420-3677GT[5] XM_011537279.3:c.420-3677GT[6] XM_011537279.3:c.420-3677GT[8] XM_011537279.3:c.420-3677GT[9] XM_011537279.3:c.420-3677GT[10]
DCAF5 transcript variant X9 XM_011537280.4:c.15-3664= XM_011537280.4:c.15-3677GT[5] XM_011537280.4:c.15-3677GT[6] XM_011537280.4:c.15-3677GT[8] XM_011537280.4:c.15-3677GT[9] XM_011537280.4:c.15-3677GT[10]
DCAF5 transcript variant X5 XM_017021733.2:c.420-3664= XM_017021733.2:c.420-3677GT[5] XM_017021733.2:c.420-3677GT[6] XM_017021733.2:c.420-3677GT[8] XM_017021733.2:c.420-3677GT[9] XM_017021733.2:c.420-3677GT[10]
DCAF5 transcript variant X10 XM_017021737.2:c.15-3664= XM_017021737.2:c.15-3677GT[5] XM_017021737.2:c.15-3677GT[6] XM_017021737.2:c.15-3677GT[8] XM_017021737.2:c.15-3677GT[9] XM_017021737.2:c.15-3677GT[10]
DCAF5 transcript variant X6 XM_047431846.1:c.420-3664= XM_047431846.1:c.420-3677GT[5] XM_047431846.1:c.420-3677GT[6] XM_047431846.1:c.420-3677GT[8] XM_047431846.1:c.420-3677GT[9] XM_047431846.1:c.420-3677GT[10]
DCAF5 transcript variant X8 XM_047431847.1:c.420-3664= XM_047431847.1:c.420-3677GT[5] XM_047431847.1:c.420-3677GT[6] XM_047431847.1:c.420-3677GT[8] XM_047431847.1:c.420-3677GT[9] XM_047431847.1:c.420-3677GT[10]
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#.

46 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95644466 Oct 12, 2018 (152)
2 BL ss256171400 May 09, 2011 (134)
3 GMI ss289228236 May 04, 2012 (137)
4 1000GENOMES ss327616502 May 09, 2011 (134)
5 1000GENOMES ss327729519 May 09, 2011 (134)
6 LUNTER ss552371218 Apr 25, 2013 (138)
7 LUNTER ss552702299 Jan 10, 2018 (151)
8 LUNTER ss553553678 Apr 25, 2013 (138)
9 TISHKOFF ss563533694 Apr 25, 2013 (138)
10 SSMP ss664239814 Apr 01, 2015 (144)
11 BILGI_BIOE ss666630843 Apr 25, 2013 (138)
12 EVA-GONL ss991273296 Aug 21, 2014 (142)
13 1000GENOMES ss1374235268 Aug 21, 2014 (142)
14 DDI ss1536788967 Apr 01, 2015 (144)
15 EVA_GENOME_DK ss1574777404 Apr 01, 2015 (144)
16 EVA_UK10K_ALSPAC ss1708104633 Jan 10, 2018 (151)
17 EVA_UK10K_TWINSUK ss1708104709 Jan 10, 2018 (151)
18 EVA_UK10K_TWINSUK ss1710641743 Apr 01, 2015 (144)
19 EVA_UK10K_ALSPAC ss1710641744 Apr 01, 2015 (144)
20 JJLAB ss2031236228 Sep 14, 2016 (149)
21 SYSTEMSBIOZJU ss2628541057 Nov 08, 2017 (151)
22 SWEGEN ss3012398055 Nov 08, 2017 (151)
23 MCHAISSO ss3063798722 Nov 08, 2017 (151)
24 URBANLAB ss3650230776 Oct 12, 2018 (152)
25 EGCUT_WGS ss3679653990 Jul 13, 2019 (153)
26 EVA_DECODE ss3696917288 Jul 13, 2019 (153)
27 EVA_DECODE ss3696917289 Jul 13, 2019 (153)
28 ACPOP ss3740488080 Jul 13, 2019 (153)
29 KHV_HUMAN_GENOMES ss3817799995 Jul 13, 2019 (153)
30 KHV_HUMAN_GENOMES ss3817799996 Jul 13, 2019 (153)
31 EVA ss3833980605 Apr 27, 2020 (154)
32 GNOMAD ss4280140085 Apr 26, 2021 (155)
33 GNOMAD ss4280140086 Apr 26, 2021 (155)
34 GNOMAD ss4280140087 Apr 26, 2021 (155)
35 GNOMAD ss4280140088 Apr 26, 2021 (155)
36 GNOMAD ss4280140089 Apr 26, 2021 (155)
37 TOMMO_GENOMICS ss5213777581 Apr 26, 2021 (155)
38 1000G_HIGH_COVERAGE ss5296645912 Oct 16, 2022 (156)
39 1000G_HIGH_COVERAGE ss5296645913 Oct 16, 2022 (156)
40 HUGCELL_USP ss5490647547 Oct 16, 2022 (156)
41 EVA ss5511285897 Oct 16, 2022 (156)
42 TOMMO_GENOMICS ss5766737859 Oct 16, 2022 (156)
43 TOMMO_GENOMICS ss5766737860 Oct 16, 2022 (156)
44 EVA ss5841275983 Oct 16, 2022 (156)
45 EVA ss5841275984 Oct 16, 2022 (156)
46 EVA ss5851085395 Oct 16, 2022 (156)
47 1000Genomes NC_000014.8 - 69562268 Oct 12, 2018 (152)
48 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 35830172 (NC_000014.8:69562267::AC 1265/3854)
Row 35830173 (NC_000014.8:69562267:AC: 41/3854)

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

Submission ignored due to conflicting rows:
Row 35830172 (NC_000014.8:69562267::AC 1265/3854)
Row 35830173 (NC_000014.8:69562267:AC: 41/3854)

- Oct 12, 2018 (152)
50 Genetic variation in the Estonian population NC_000014.8 - 69562268 Oct 12, 2018 (152)
51 The Danish reference pan genome NC_000014.8 - 69562268 Apr 27, 2020 (154)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 454682558 (NC_000014.9:69095550::AC 39736/139242)
Row 454682559 (NC_000014.9:69095550::ACAC 18/139322)
Row 454682560 (NC_000014.9:69095550::ACACAC 4/139324)...

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

Submission ignored due to conflicting rows:
Row 454682558 (NC_000014.9:69095550::AC 39736/139242)
Row 454682559 (NC_000014.9:69095550::ACAC 18/139322)
Row 454682560 (NC_000014.9:69095550::ACACAC 4/139324)...

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

Submission ignored due to conflicting rows:
Row 454682558 (NC_000014.9:69095550::AC 39736/139242)
Row 454682559 (NC_000014.9:69095550::ACAC 18/139322)
Row 454682560 (NC_000014.9:69095550::ACACAC 4/139324)...

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

Submission ignored due to conflicting rows:
Row 454682558 (NC_000014.9:69095550::AC 39736/139242)
Row 454682559 (NC_000014.9:69095550::ACAC 18/139322)
Row 454682560 (NC_000014.9:69095550::ACACAC 4/139324)...

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

Submission ignored due to conflicting rows:
Row 454682558 (NC_000014.9:69095550::AC 39736/139242)
Row 454682559 (NC_000014.9:69095550::ACAC 18/139322)
Row 454682560 (NC_000014.9:69095550::ACACAC 4/139324)...

- Apr 26, 2021 (155)
57 Genome of the Netherlands Release 5 NC_000014.8 - 69562268 Apr 27, 2020 (154)
58 Northern Sweden NC_000014.8 - 69562268 Jul 13, 2019 (153)
59 8.3KJPN NC_000014.8 - 69562268 Apr 26, 2021 (155)
60 14KJPN

Submission ignored due to conflicting rows:
Row 100574963 (NC_000014.9:69095550::AC 25791/28258)
Row 100574964 (NC_000014.9:69095550::ACAC 2/28258)

- Oct 16, 2022 (156)
61 14KJPN

Submission ignored due to conflicting rows:
Row 100574963 (NC_000014.9:69095550::AC 25791/28258)
Row 100574964 (NC_000014.9:69095550::ACAC 2/28258)

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

Submission ignored due to conflicting rows:
Row 35830172 (NC_000014.8:69562267::AC 1180/3708)
Row 35830173 (NC_000014.8:69562267:AC: 37/3708)

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

Submission ignored due to conflicting rows:
Row 35830172 (NC_000014.8:69562267::AC 1180/3708)
Row 35830173 (NC_000014.8:69562267:AC: 37/3708)

- Oct 12, 2018 (152)
64 ALFA NC_000014.9 - 69095551 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)
rs150117509 May 15, 2013 (138)
rs374713198 May 13, 2013 (138)
rs796745257 Nov 08, 2017 (151)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4280140089 NC_000014.9:69095550:ACAC: NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACA

(self)
12458538695 NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACA

NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACA

(self)
ss552702299 NC_000014.7:68632020:AC: NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACA

(self)
ss1708104633, ss1708104709, ss5511285897, ss5841275984 NC_000014.8:69562267:AC: NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACA

(self)
ss3696917289, ss4280140088 NC_000014.9:69095550:AC: NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACA

(self)
12458538695 NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACA

NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACA

(self)
ss256171400, ss327616502, ss327729519, ss552371218, ss553553678 NC_000014.7:68632020::AC NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACA

(self)
ss289228236 NC_000014.7:68632035::CA NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACA

(self)
64485035, 25392238, 458431, 16001018, 13772945, 71746888, ss664239814, ss666630843, ss991273296, ss1374235268, ss1536788967, ss1574777404, ss2031236228, ss2628541057, ss3012398055, ss3679653990, ss3740488080, ss3833980605, ss5213777581, ss5841275983 NC_000014.8:69562267::AC NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACA

(self)
ss1710641743, ss1710641744 NC_000014.8:69562269::AC NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACA

(self)
ss563533694 NC_000014.8:69562282::CA NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACA

(self)
ss3063798722, ss3650230776, ss3817799995, ss4280140085, ss5296645912, ss5490647547, ss5766737859, ss5851085395 NC_000014.9:69095550::AC NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACA

(self)
12458538695 NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACA

NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACA

(self)
ss3696917288 NC_000014.9:69095552::AC NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACA

(self)
ss95644466 NT_026437.12:50562282::CA NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACA

(self)
ss4280140086, ss5766737860 NC_000014.9:69095550::ACAC NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACACA

(self)
12458538695 NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACACA

NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACACA

(self)
ss3817799996, ss4280140087, ss5296645913 NC_000014.9:69095550::ACACAC NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACACACA

(self)
12458538695 NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACACACA

NC_000014.9:69095550:ACACACACACACA…

NC_000014.9:69095550:ACACACACACACACA:ACACACACACACACACACACA

(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 rs71102626

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