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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.

rs35504374

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:77691625-77691645 (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)13 / del(A)11 / del(A)7 / de…

del(A)13 / del(A)11 / del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA

Variation Type
Indel Insertion and Deletion
Frequency
delAA=0.1277 (1021/7993, ALFA)
delAA=0.4477 (2242/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
APTR : 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 7993 AAAAAAAAAAAAAAAAAAAAA=0.8649 AAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0036, AAAAAAAAAAAAAAAAAAA=0.1277, AAAAAAAAAAAAAAAAAAAAAA=0.0038, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000 0.778405 0.035137 0.186458 32
European Sub 7133 AAAAAAAAAAAAAAAAAAAAA=0.8489 AAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0041, AAAAAAAAAAAAAAAAAAA=0.1429, AAAAAAAAAAAAAAAAAAAAAA=0.0042, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000 0.751225 0.039204 0.20957 32
African Sub 294 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 8 AAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 286 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 62 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 44 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 18 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 54 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 276 AAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 20 AAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 154 AAAAAAAAAAAAAAAAAAAAA=0.987 AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.013, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000 0.987013 0.012987 0.0 32


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 7993 (A)21=0.8649 del(A)13=0.0000, del(A)11=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)4=0.0000, delAAA=0.0036, delAA=0.1277, delA=0.0000, dupA=0.0038, dupAA=0.0000
Allele Frequency Aggregator European Sub 7133 (A)21=0.8489 del(A)13=0.0000, del(A)11=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)4=0.0000, delAAA=0.0041, delAA=0.1429, delA=0.0000, dupA=0.0042, dupAA=0.0000
Allele Frequency Aggregator African Sub 294 (A)21=1.000 del(A)13=0.000, del(A)11=0.000, del(A)7=0.000, del(A)6=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Latin American 2 Sub 276 (A)21=1.000 del(A)13=0.000, del(A)11=0.000, del(A)7=0.000, del(A)6=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Other Sub 154 (A)21=0.987 del(A)13=0.000, del(A)11=0.000, del(A)7=0.000, del(A)6=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.013, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Asian Sub 62 (A)21=1.00 del(A)13=0.00, del(A)11=0.00, del(A)7=0.00, del(A)6=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Latin American 1 Sub 54 (A)21=1.00 del(A)13=0.00, del(A)11=0.00, del(A)7=0.00, del(A)6=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator South Asian Sub 20 (A)21=1.00 del(A)13=0.00, del(A)11=0.00, del(A)7=0.00, del(A)6=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
1000Genomes Global Study-wide 5008 (A)21=0.5523 delAA=0.4477
1000Genomes African Sub 1322 (A)21=0.3343 delAA=0.6657
1000Genomes East Asian Sub 1008 (A)21=0.7669 delAA=0.2331
1000Genomes Europe Sub 1006 (A)21=0.6113 delAA=0.3887
1000Genomes South Asian Sub 978 (A)21=0.475 delAA=0.525
1000Genomes American Sub 694 (A)21=0.679 delAA=0.321
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 7 NC_000007.14:g.77691633_77691645del
GRCh38.p14 chr 7 NC_000007.14:g.77691635_77691645del
GRCh38.p14 chr 7 NC_000007.14:g.77691639_77691645del
GRCh38.p14 chr 7 NC_000007.14:g.77691640_77691645del
GRCh38.p14 chr 7 NC_000007.14:g.77691641_77691645del
GRCh38.p14 chr 7 NC_000007.14:g.77691642_77691645del
GRCh38.p14 chr 7 NC_000007.14:g.77691643_77691645del
GRCh38.p14 chr 7 NC_000007.14:g.77691644_77691645del
GRCh38.p14 chr 7 NC_000007.14:g.77691645del
GRCh38.p14 chr 7 NC_000007.14:g.77691645dup
GRCh38.p14 chr 7 NC_000007.14:g.77691644_77691645dup
GRCh38.p14 chr 7 NC_000007.14:g.77691643_77691645dup
GRCh37.p13 chr 7 NC_000007.13:g.77320950_77320962del
GRCh37.p13 chr 7 NC_000007.13:g.77320952_77320962del
GRCh37.p13 chr 7 NC_000007.13:g.77320956_77320962del
GRCh37.p13 chr 7 NC_000007.13:g.77320957_77320962del
GRCh37.p13 chr 7 NC_000007.13:g.77320958_77320962del
GRCh37.p13 chr 7 NC_000007.13:g.77320959_77320962del
GRCh37.p13 chr 7 NC_000007.13:g.77320960_77320962del
GRCh37.p13 chr 7 NC_000007.13:g.77320961_77320962del
GRCh37.p13 chr 7 NC_000007.13:g.77320962del
GRCh37.p13 chr 7 NC_000007.13:g.77320962dup
GRCh37.p13 chr 7 NC_000007.13:g.77320961_77320962dup
GRCh37.p13 chr 7 NC_000007.13:g.77320960_77320962dup
Gene: APTR, Alu-mediated CDKN1A/p21 transcriptional regulator (minus strand)
Molecule type Change Amino acid[Codon] SO Term
APTR transcript variant 1 NR_038361.1:n. N/A Intron Variant
APTR transcript variant 2 NR_134251.1:n. N/A Intron Variant
APTR transcript variant 3 NR_134253.1:n. N/A Intron Variant
APTR transcript variant 4 NR_134254.1: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)21= del(A)13 del(A)11 del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA
GRCh38.p14 chr 7 NC_000007.14:g.77691625_77691645= NC_000007.14:g.77691633_77691645del NC_000007.14:g.77691635_77691645del NC_000007.14:g.77691639_77691645del NC_000007.14:g.77691640_77691645del NC_000007.14:g.77691641_77691645del NC_000007.14:g.77691642_77691645del NC_000007.14:g.77691643_77691645del NC_000007.14:g.77691644_77691645del NC_000007.14:g.77691645del NC_000007.14:g.77691645dup NC_000007.14:g.77691644_77691645dup NC_000007.14:g.77691643_77691645dup
GRCh37.p13 chr 7 NC_000007.13:g.77320942_77320962= NC_000007.13:g.77320950_77320962del NC_000007.13:g.77320952_77320962del NC_000007.13:g.77320956_77320962del NC_000007.13:g.77320957_77320962del NC_000007.13:g.77320958_77320962del NC_000007.13:g.77320959_77320962del NC_000007.13:g.77320960_77320962del NC_000007.13:g.77320961_77320962del NC_000007.13:g.77320962del NC_000007.13:g.77320962dup NC_000007.13:g.77320961_77320962dup NC_000007.13:g.77320960_77320962dup
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#.

53 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss42923742 Mar 15, 2006 (126)
2 HGSV ss82358348 Dec 15, 2007 (129)
3 HGSV ss82704302 Dec 15, 2007 (129)
4 HGSV ss83899211 Dec 15, 2007 (129)
5 BCMHGSC_JDW ss103752514 Mar 15, 2016 (147)
6 BILGI_BIOE ss666404386 Apr 25, 2013 (138)
7 1000GENOMES ss1377267328 Jan 10, 2018 (151)
8 EVA_UK10K_ALSPAC ss1705690900 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1705690993 Apr 01, 2015 (144)
10 EVA_UK10K_ALSPAC ss1710331604 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1710337223 Apr 01, 2015 (144)
12 SWEGEN ss3001466223 Nov 08, 2017 (151)
13 MCHAISSO ss3066152217 Jan 10, 2018 (151)
14 EVA_DECODE ss3720012145 Jul 13, 2019 (153)
15 EVA_DECODE ss3720012146 Jul 13, 2019 (153)
16 EVA_DECODE ss3720012147 Jul 13, 2019 (153)
17 EVA_DECODE ss3720012148 Jul 13, 2019 (153)
18 EVA_DECODE ss3720012149 Jul 13, 2019 (153)
19 EVA_DECODE ss3720012150 Jul 13, 2019 (153)
20 KHV_HUMAN_GENOMES ss3809914216 Jul 13, 2019 (153)
21 EVA ss3830650188 Apr 26, 2020 (154)
22 EVA ss3838821642 Apr 26, 2020 (154)
23 KOGIC ss3961901444 Apr 26, 2020 (154)
24 KOGIC ss3961901445 Apr 26, 2020 (154)
25 KOGIC ss3961901446 Apr 26, 2020 (154)
26 KOGIC ss3961901447 Apr 26, 2020 (154)
27 GNOMAD ss4166677442 Apr 26, 2021 (155)
28 GNOMAD ss4166677443 Apr 26, 2021 (155)
29 GNOMAD ss4166677444 Apr 26, 2021 (155)
30 GNOMAD ss4166677445 Apr 26, 2021 (155)
31 GNOMAD ss4166677446 Apr 26, 2021 (155)
32 GNOMAD ss4166677447 Apr 26, 2021 (155)
33 GNOMAD ss4166677448 Apr 26, 2021 (155)
34 GNOMAD ss4166677449 Apr 26, 2021 (155)
35 GNOMAD ss4166677450 Apr 26, 2021 (155)
36 GNOMAD ss4166677451 Apr 26, 2021 (155)
37 TOMMO_GENOMICS ss5183976085 Apr 26, 2021 (155)
38 TOMMO_GENOMICS ss5183976086 Apr 26, 2021 (155)
39 TOMMO_GENOMICS ss5183976087 Apr 26, 2021 (155)
40 1000G_HIGH_COVERAGE ss5273504924 Oct 17, 2022 (156)
41 1000G_HIGH_COVERAGE ss5273504925 Oct 17, 2022 (156)
42 1000G_HIGH_COVERAGE ss5273504926 Oct 17, 2022 (156)
43 1000G_HIGH_COVERAGE ss5273504927 Oct 17, 2022 (156)
44 HUGCELL_USP ss5470524864 Oct 17, 2022 (156)
45 HUGCELL_USP ss5470524865 Oct 17, 2022 (156)
46 HUGCELL_USP ss5470524866 Oct 17, 2022 (156)
47 HUGCELL_USP ss5470524867 Oct 17, 2022 (156)
48 EVA ss5509010340 Oct 17, 2022 (156)
49 TOMMO_GENOMICS ss5724486097 Oct 17, 2022 (156)
50 TOMMO_GENOMICS ss5724486098 Oct 17, 2022 (156)
51 TOMMO_GENOMICS ss5724486099 Oct 17, 2022 (156)
52 TOMMO_GENOMICS ss5724486100 Oct 17, 2022 (156)
53 EVA ss5855959984 Oct 17, 2022 (156)
54 1000Genomes NC_000007.13 - 77320942 Oct 12, 2018 (152)
55 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 20996406 (NC_000007.13:77320942:A: 2187/3854)
Row 20996407 (NC_000007.13:77320941:AAA: 1054/3854)

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

Submission ignored due to conflicting rows:
Row 20996406 (NC_000007.13:77320942:A: 2187/3854)
Row 20996407 (NC_000007.13:77320941:AAA: 1054/3854)

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

Submission ignored due to conflicting rows:
Row 266165447 (NC_000007.14:77691624::A 963/89348)
Row 266165448 (NC_000007.14:77691624::AA 4/89570)
Row 266165449 (NC_000007.14:77691624::AAA 1/89586)...

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

Submission ignored due to conflicting rows:
Row 266165447 (NC_000007.14:77691624::A 963/89348)
Row 266165448 (NC_000007.14:77691624::AA 4/89570)
Row 266165449 (NC_000007.14:77691624::AAA 1/89586)...

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

Submission ignored due to conflicting rows:
Row 266165447 (NC_000007.14:77691624::A 963/89348)
Row 266165448 (NC_000007.14:77691624::AA 4/89570)
Row 266165449 (NC_000007.14:77691624::AAA 1/89586)...

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

Submission ignored due to conflicting rows:
Row 266165447 (NC_000007.14:77691624::A 963/89348)
Row 266165448 (NC_000007.14:77691624::AA 4/89570)
Row 266165449 (NC_000007.14:77691624::AAA 1/89586)...

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

Submission ignored due to conflicting rows:
Row 266165447 (NC_000007.14:77691624::A 963/89348)
Row 266165448 (NC_000007.14:77691624::AA 4/89570)
Row 266165449 (NC_000007.14:77691624::AAA 1/89586)...

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

Submission ignored due to conflicting rows:
Row 266165447 (NC_000007.14:77691624::A 963/89348)
Row 266165448 (NC_000007.14:77691624::AA 4/89570)
Row 266165449 (NC_000007.14:77691624::AAA 1/89586)...

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

Submission ignored due to conflicting rows:
Row 266165447 (NC_000007.14:77691624::A 963/89348)
Row 266165448 (NC_000007.14:77691624::AA 4/89570)
Row 266165449 (NC_000007.14:77691624::AAA 1/89586)...

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

Submission ignored due to conflicting rows:
Row 266165447 (NC_000007.14:77691624::A 963/89348)
Row 266165448 (NC_000007.14:77691624::AA 4/89570)
Row 266165449 (NC_000007.14:77691624::AAA 1/89586)...

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

Submission ignored due to conflicting rows:
Row 266165447 (NC_000007.14:77691624::A 963/89348)
Row 266165448 (NC_000007.14:77691624::AA 4/89570)
Row 266165449 (NC_000007.14:77691624::AAA 1/89586)...

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

Submission ignored due to conflicting rows:
Row 266165447 (NC_000007.14:77691624::A 963/89348)
Row 266165448 (NC_000007.14:77691624::AA 4/89570)
Row 266165449 (NC_000007.14:77691624::AAA 1/89586)...

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

Submission ignored due to conflicting rows:
Row 266165447 (NC_000007.14:77691624::A 963/89348)
Row 266165448 (NC_000007.14:77691624::AA 4/89570)
Row 266165449 (NC_000007.14:77691624::AAA 1/89586)...

- Apr 26, 2021 (155)
68 Korean Genome Project

Submission ignored due to conflicting rows:
Row 18279445 (NC_000007.14:77691626:A: 253/1812)
Row 18279446 (NC_000007.14:77691627::A 120/1812)
Row 18279447 (NC_000007.14:77691625:AA: 376/1812)...

- Apr 26, 2020 (154)
69 Korean Genome Project

Submission ignored due to conflicting rows:
Row 18279445 (NC_000007.14:77691626:A: 253/1812)
Row 18279446 (NC_000007.14:77691627::A 120/1812)
Row 18279447 (NC_000007.14:77691625:AA: 376/1812)...

- Apr 26, 2020 (154)
70 Korean Genome Project

Submission ignored due to conflicting rows:
Row 18279445 (NC_000007.14:77691626:A: 253/1812)
Row 18279446 (NC_000007.14:77691627::A 120/1812)
Row 18279447 (NC_000007.14:77691625:AA: 376/1812)...

- Apr 26, 2020 (154)
71 Korean Genome Project

Submission ignored due to conflicting rows:
Row 18279445 (NC_000007.14:77691626:A: 253/1812)
Row 18279446 (NC_000007.14:77691627::A 120/1812)
Row 18279447 (NC_000007.14:77691625:AA: 376/1812)...

- Apr 26, 2020 (154)
72 8.3KJPN

Submission ignored due to conflicting rows:
Row 41945392 (NC_000007.13:77320941:A: 32/16616)
Row 41945393 (NC_000007.13:77320941:AA: 4523/16616)
Row 41945394 (NC_000007.13:77320941::A 238/16616)

- Apr 26, 2021 (155)
73 8.3KJPN

Submission ignored due to conflicting rows:
Row 41945392 (NC_000007.13:77320941:A: 32/16616)
Row 41945393 (NC_000007.13:77320941:AA: 4523/16616)
Row 41945394 (NC_000007.13:77320941::A 238/16616)

- Apr 26, 2021 (155)
74 8.3KJPN

Submission ignored due to conflicting rows:
Row 41945392 (NC_000007.13:77320941:A: 32/16616)
Row 41945393 (NC_000007.13:77320941:AA: 4523/16616)
Row 41945394 (NC_000007.13:77320941::A 238/16616)

- Apr 26, 2021 (155)
75 14KJPN

Submission ignored due to conflicting rows:
Row 58323201 (NC_000007.14:77691624:AA: 8070/28174)
Row 58323202 (NC_000007.14:77691624::A 353/28174)
Row 58323203 (NC_000007.14:77691624:A: 40/28174)...

- Oct 17, 2022 (156)
76 14KJPN

Submission ignored due to conflicting rows:
Row 58323201 (NC_000007.14:77691624:AA: 8070/28174)
Row 58323202 (NC_000007.14:77691624::A 353/28174)
Row 58323203 (NC_000007.14:77691624:A: 40/28174)...

- Oct 17, 2022 (156)
77 14KJPN

Submission ignored due to conflicting rows:
Row 58323201 (NC_000007.14:77691624:AA: 8070/28174)
Row 58323202 (NC_000007.14:77691624::A 353/28174)
Row 58323203 (NC_000007.14:77691624:A: 40/28174)...

- Oct 17, 2022 (156)
78 14KJPN

Submission ignored due to conflicting rows:
Row 58323201 (NC_000007.14:77691624:AA: 8070/28174)
Row 58323202 (NC_000007.14:77691624::A 353/28174)
Row 58323203 (NC_000007.14:77691624:A: 40/28174)...

- Oct 17, 2022 (156)
79 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 20996406 (NC_000007.13:77320942:A: 2118/3708)
Row 20996407 (NC_000007.13:77320941:AAA: 945/3708)

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

Submission ignored due to conflicting rows:
Row 20996406 (NC_000007.13:77320942:A: 2118/3708)
Row 20996407 (NC_000007.13:77320941:AAA: 945/3708)

- Oct 12, 2018 (152)
81 ALFA NC_000007.14 - 77691625 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)
rs74320658 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4166677451 NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAA:

NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
9401470594 NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
9401470594 NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4166677450 NC_000007.14:77691624:AAAAAAA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
9401470594 NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4166677449 NC_000007.14:77691624:AAAAAA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
9401470594 NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3720012150, ss4166677448 NC_000007.14:77691624:AAAAA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4166677447, ss5855959984 NC_000007.14:77691624:AAAA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
9401470594 NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3720012149 NC_000007.14:77691625:AAAA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss666404386, ss1705690900, ss1705690993, ss3001466223 NC_000007.13:77320941:AAA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3961901447, ss4166677446, ss5273504926, ss5470524866, ss5724486100 NC_000007.14:77691624:AAA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
9401470594 NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3720012148 NC_000007.14:77691626:AAA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss42923742 NT_007933.15:15353802:AAA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss82358348, ss82704302, ss83899211 NC_000007.11:76965611:AA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
37730032, ss1377267328, ss3830650188, ss3838821642, ss5183976086 NC_000007.13:77320941:AA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss1710331604, ss1710337223 NC_000007.13:77320942:AA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3066152217, ss3809914216, ss4166677445, ss5273504924, ss5470524864, ss5724486097 NC_000007.14:77691624:AA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
9401470594 NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3961901446 NC_000007.14:77691625:AA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3720012147 NC_000007.14:77691627:AA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss103752514 NT_007933.15:15353802:AA: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5183976085 NC_000007.13:77320941:A: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
NC_000007.13:77320942:A: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss5273504925, ss5470524867, ss5724486099 NC_000007.14:77691624:A: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
9401470594 NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3961901444 NC_000007.14:77691626:A: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3720012146 NC_000007.14:77691628:A: NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss5183976087 NC_000007.13:77320941::A NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4166677442, ss5273504927, ss5470524865, ss5724486098 NC_000007.14:77691624::A NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
9401470594 NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3961901445 NC_000007.14:77691627::A NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3720012145 NC_000007.14:77691629::A NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss5509010340 NC_000007.13:77320941::AA NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

ss4166677443 NC_000007.14:77691624::AA NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
9401470594 NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4166677444 NC_000007.14:77691624::AAA NC_000007.14:77691624:AAAAAAAAAAAA…

NC_000007.14:77691624:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(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 rs35504374

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