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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.

rs376621245

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:99000-99042 (GRCh38.p13) 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(ATTT)6 / del(ATTT)4 / del(ATTT…

del(ATTT)6 / del(ATTT)4 / del(ATTT)3 / del(ATTT)2 / delATTT / dupATTT / dup(ATTT)2 / dup(ATTT)3 / dup(ATTT)4 / dup(ATTT)5

Variation Type
Indel Insertion and Deletion
Frequency
dupATTT=0.3026 (1603/5298, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC100996442 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.99003ATTT[4]
GRCh38.p13 chr 1 NC_000001.11:g.99003ATTT[6]
GRCh38.p13 chr 1 NC_000001.11:g.99003ATTT[7]
GRCh38.p13 chr 1 NC_000001.11:g.99003ATTT[8]
GRCh38.p13 chr 1 NC_000001.11:g.99003ATTT[9]
GRCh38.p13 chr 1 NC_000001.11:g.99003ATTT[11]
GRCh38.p13 chr 1 NC_000001.11:g.99003ATTT[12]
GRCh38.p13 chr 1 NC_000001.11:g.99003ATTT[13]
GRCh38.p13 chr 1 NC_000001.11:g.99003ATTT[14]
GRCh38.p13 chr 1 NC_000001.11:g.99003ATTT[15]
GRCh37.p13 chr 1 NC_000001.10:g.99003ATTT[4]
GRCh37.p13 chr 1 NC_000001.10:g.99003ATTT[6]
GRCh37.p13 chr 1 NC_000001.10:g.99003ATTT[7]
GRCh37.p13 chr 1 NC_000001.10:g.99003ATTT[8]
GRCh37.p13 chr 1 NC_000001.10:g.99003ATTT[9]
GRCh37.p13 chr 1 NC_000001.10:g.99003ATTT[11]
GRCh37.p13 chr 1 NC_000001.10:g.99003ATTT[12]
GRCh37.p13 chr 1 NC_000001.10:g.99003ATTT[13]
GRCh37.p13 chr 1 NC_000001.10:g.99003ATTT[14]
GRCh37.p13 chr 1 NC_000001.10:g.99003ATTT[15]
Gene: LOC100996442, uncharacterized LOC100996442 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC100996442 transcript variant X4 XR_001737578.2:n. N/A Intron Variant
LOC100996442 transcript variant X8 XR_001737580.2:n. N/A Intron Variant
LOC100996442 transcript variant X11 XR_001737581.2:n. N/A Intron Variant
LOC100996442 transcript variant X12 XR_001737582.2:n. N/A Intron Variant
LOC100996442 transcript variant X13 XR_001737583.2:n. N/A Intron Variant
LOC100996442 transcript variant X14 XR_001737584.2:n. N/A Intron Variant
LOC100996442 transcript variant X5 XR_001737579.2:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X1 XR_002958514.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X2 XR_002958515.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X3 XR_002958516.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X6 XR_002958517.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X7 XR_002958518.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X9 XR_002958519.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X10 XR_002958520.1:n. N/A Genic Downstream Transcript 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 5298 TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.3915 TTTATTTATTTATTTATTTATTTATTT=0.0000, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.2280, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.3026, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0372, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0379, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0028, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0000
European Sub 4902 TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.3437 TTTATTTATTTATTTATTTATTTATTT=0.0000, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.2458, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.3266, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0398, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0410, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0031, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0000
African Sub 248 TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.000 TTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000
African Others Sub 4 TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.0 TTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0
African American Sub 244 TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.000 TTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.000
Asian Sub 10 TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.0 TTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0
East Asian Sub 6 TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.0 TTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0
Other Asian Sub 4 TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.0 TTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0
Latin American 1 Sub 2 TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.0 TTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0
Latin American 2 Sub 72 TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.00 TTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00
South Asian Sub 6 TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=1.0 TTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.0
Other Sub 58 TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.88 TTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTT=0.05, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.03, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.03, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00, TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT=0.00


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
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 (TTTA)10TTT= del(ATTT)6 del(ATTT)4 del(ATTT)3 del(ATTT)2 delATTT dupATTT dup(ATTT)2 dup(ATTT)3 dup(ATTT)4 dup(ATTT)5
GRCh38.p13 chr 1 NC_000001.11:g.99000_99042= NC_000001.11:g.99003ATTT[4] NC_000001.11:g.99003ATTT[6] NC_000001.11:g.99003ATTT[7] NC_000001.11:g.99003ATTT[8] NC_000001.11:g.99003ATTT[9] NC_000001.11:g.99003ATTT[11] NC_000001.11:g.99003ATTT[12] NC_000001.11:g.99003ATTT[13] NC_000001.11:g.99003ATTT[14] NC_000001.11:g.99003ATTT[15]
GRCh37.p13 chr 1 NC_000001.10:g.99000_99042= NC_000001.10:g.99003ATTT[4] NC_000001.10:g.99003ATTT[6] NC_000001.10:g.99003ATTT[7] NC_000001.10:g.99003ATTT[8] NC_000001.10:g.99003ATTT[9] NC_000001.10:g.99003ATTT[11] NC_000001.10:g.99003ATTT[12] NC_000001.10:g.99003ATTT[13] NC_000001.10:g.99003ATTT[14] NC_000001.10:g.99003ATTT[15]
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#.

35 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 BILGI_BIOE ss666079958 Apr 25, 2013 (138)
2 DDI ss1536213868 Apr 01, 2015 (144)
3 EVA_UK10K_ALSPAC ss1700140405 Apr 01, 2015 (144)
4 EVA_UK10K_TWINSUK ss1700153093 Apr 01, 2015 (144)
5 EVA_UK10K_TWINSUK ss1709905374 Apr 01, 2015 (144)
6 EVA_UK10K_ALSPAC ss1709907291 Apr 01, 2015 (144)
7 PADH-LAB_SPU ss1713846953 Sep 08, 2015 (146)
8 SWEGEN ss2986142742 Nov 08, 2017 (151)
9 MCHAISSO ss3064385949 Nov 08, 2017 (151)
10 MCHAISSO ss3065282409 Nov 08, 2017 (151)
11 TOPMED ss3066330391 Nov 08, 2017 (151)
12 TOPMED ss3066330392 Nov 08, 2017 (151)
13 TOPMED ss3066330393 Nov 08, 2017 (151)
14 TOPMED ss3066330394 Nov 08, 2017 (151)
15 TOPMED ss3066330395 Nov 08, 2017 (151)
16 TOPMED ss3066330396 Nov 08, 2017 (151)
17 EVA_DECODE ss3685990764 Jul 12, 2019 (153)
18 EVA_DECODE ss3685990765 Jul 12, 2019 (153)
19 EVA_DECODE ss3685990766 Jul 12, 2019 (153)
20 EVA_DECODE ss3685990767 Jul 12, 2019 (153)
21 EVA_DECODE ss3685990768 Jul 12, 2019 (153)
22 EVA_DECODE ss3685990769 Jul 12, 2019 (153)
23 GNOMAD ss3986895486 Apr 25, 2021 (155)
24 GNOMAD ss3986895487 Apr 25, 2021 (155)
25 GNOMAD ss3986895488 Apr 25, 2021 (155)
26 GNOMAD ss3986895489 Apr 25, 2021 (155)
27 GNOMAD ss3986895490 Apr 25, 2021 (155)
28 GNOMAD ss3986895491 Apr 25, 2021 (155)
29 GNOMAD ss3986895492 Apr 25, 2021 (155)
30 GNOMAD ss3986895493 Apr 25, 2021 (155)
31 TOMMO_GENOMICS ss5142035224 Apr 25, 2021 (155)
32 TOMMO_GENOMICS ss5142035225 Apr 25, 2021 (155)
33 TOMMO_GENOMICS ss5142035226 Apr 25, 2021 (155)
34 TOMMO_GENOMICS ss5142035227 Apr 25, 2021 (155)
35 TOMMO_GENOMICS ss5142035228 Apr 25, 2021 (155)
36 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 29 (NC_000001.10:98999::TTTA 1760/3854)
Row 30 (NC_000001.10:98999:TTTA: 372/3854)

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

Submission ignored due to conflicting rows:
Row 29 (NC_000001.10:98999::TTTA 1760/3854)
Row 30 (NC_000001.10:98999:TTTA: 372/3854)

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

Submission ignored due to conflicting rows:
Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610)
Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516)
Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...

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

Submission ignored due to conflicting rows:
Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610)
Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516)
Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...

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

Submission ignored due to conflicting rows:
Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610)
Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516)
Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...

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

Submission ignored due to conflicting rows:
Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610)
Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516)
Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...

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

Submission ignored due to conflicting rows:
Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610)
Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516)
Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...

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

Submission ignored due to conflicting rows:
Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610)
Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516)
Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...

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

Submission ignored due to conflicting rows:
Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610)
Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516)
Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...

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

Submission ignored due to conflicting rows:
Row 11938 (NC_000001.11:98999::TTTATTTA 3747/116610)
Row 11939 (NC_000001.11:98999::TTTATTTATTTA 231/117516)
Row 11940 (NC_000001.11:98999::TTTATTTATTTATTTA 8/117608)...

- Apr 25, 2021 (155)
46 8.3KJPN

Submission ignored due to conflicting rows:
Row 4531 (NC_000001.10:98999:TTTATTTA: 572/16754)
Row 4532 (NC_000001.10:98999::TTTA 8031/16754)
Row 4533 (NC_000001.10:98999::TTTATTTA 713/16754)...

- Apr 25, 2021 (155)
47 8.3KJPN

Submission ignored due to conflicting rows:
Row 4531 (NC_000001.10:98999:TTTATTTA: 572/16754)
Row 4532 (NC_000001.10:98999::TTTA 8031/16754)
Row 4533 (NC_000001.10:98999::TTTATTTA 713/16754)...

- Apr 25, 2021 (155)
48 8.3KJPN

Submission ignored due to conflicting rows:
Row 4531 (NC_000001.10:98999:TTTATTTA: 572/16754)
Row 4532 (NC_000001.10:98999::TTTA 8031/16754)
Row 4533 (NC_000001.10:98999::TTTATTTA 713/16754)...

- Apr 25, 2021 (155)
49 8.3KJPN

Submission ignored due to conflicting rows:
Row 4531 (NC_000001.10:98999:TTTATTTA: 572/16754)
Row 4532 (NC_000001.10:98999::TTTA 8031/16754)
Row 4533 (NC_000001.10:98999::TTTATTTA 713/16754)...

- Apr 25, 2021 (155)
50 8.3KJPN

Submission ignored due to conflicting rows:
Row 4531 (NC_000001.10:98999:TTTATTTA: 572/16754)
Row 4532 (NC_000001.10:98999::TTTA 8031/16754)
Row 4533 (NC_000001.10:98999::TTTATTTA 713/16754)...

- Apr 25, 2021 (155)
51 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 29 (NC_000001.10:98999::TTTA 1763/3708)
Row 30 (NC_000001.10:98999:TTTA: 310/3708)

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

Submission ignored due to conflicting rows:
Row 29 (NC_000001.10:98999::TTTA 1763/3708)
Row 30 (NC_000001.10:98999:TTTA: 310/3708)

- Oct 11, 2018 (152)
53 ALFA NC_000001.11 - 99000 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3685990764, ss3986895493 NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTA:

NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTT

(self)
ss3065282409, ss3986895492 NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTA:

NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTT

(self)
5367046479 NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTT

NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTT

ss3986895491 NC_000001.11:98999:TTTATTTATTTA: NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTT

ss2986142742, ss5142035224 NC_000001.10:98999:TTTATTTA: NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
ss3064385949, ss3066330396, ss3986895490 NC_000001.11:98999:TTTATTTA: NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
5367046479 NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTT

NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTT

ss3685990765 NC_000001.11:99015:TTTATTTA: NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
ss1700140405, ss1700153093, ss5142035227 NC_000001.10:98999:TTTA: NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
ss3066330395, ss3986895489 NC_000001.11:98999:TTTA: NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
5367046479 NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

ss3685990766 NC_000001.11:99019:TTTA: NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
ss666079958, ss1536213868, ss1713846953, ss5142035225 NC_000001.10:98999::TTTA NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
ss1709905374, ss1709907291 NC_000001.10:99003::TTTA NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
ss3066330391 NC_000001.11:98999::TTTA NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
5367046479 NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

ss3685990767 NC_000001.11:99023::TTTA NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
ss5142035226 NC_000001.10:98999::TTTATTTA NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
ss3066330392, ss3986895486 NC_000001.11:98999::TTTATTTA NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
5367046479 NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

ss3685990768 NC_000001.11:99023::TTTATTTA NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
ss5142035228 NC_000001.10:98999::TTTATTTATTTA NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
ss3066330393, ss3986895487 NC_000001.11:98999::TTTATTTATTTA NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
5367046479 NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

ss3685990769 NC_000001.11:99023::TTTATTTATTTA NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
ss3066330394, ss3986895488 NC_000001.11:98999::TTTATTTATTTATT…

NC_000001.11:98999::TTTATTTATTTATTTA

NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

(self)
5367046479 NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

5367046479 NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT

Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
NC_000001.10:98999:TTTATTTATTTATTT…

NC_000001.10:98999:TTTATTTATTTATTTA:

NC_000001.11:98999:TTTATTTATTTATTT…

NC_000001.11:98999:TTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT:TTTATTTATTTATTTATTTATTTATTT

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 rs376621245

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.post596+ae089ad