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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.

rs71980200

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:96991901-96991915 (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)7 / del(A)4 / delAAA / delAA…

del(A)7 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)13 / dup(A)14

Variation Type
Indel Insertion and Deletion
Frequency
del(A)7=0.000011 (3/264690, TOPMED)
delA=0.3498 (1752/5008, 1000G)
del(A)7=0.0000 (0/4780, ALFA) (+ 9 more)
del(A)4=0.0000 (0/4780, ALFA)
delAAA=0.0000 (0/4780, ALFA)
delAA=0.0000 (0/4780, ALFA)
delA=0.0000 (0/4780, ALFA)
dupA=0.0000 (0/4780, ALFA)
dupAA=0.0000 (0/4780, ALFA)
dupAAA=0.0000 (0/4780, ALFA)
dup(A)4=0.0000 (0/4780, ALFA)
dup(A)5=0.0000 (0/4780, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DLX6-AS1 : 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 4780 AAAAAAAAAAAAAAA=1.0000 AAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 3742 AAAAAAAAAAAAAAA=1.0000 AAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 610 AAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 30 AAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 580 AAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 22 AAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 14 AAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 8 AAAAAAAAAAAAAAA=1.0 AAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 48 AAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 190 AAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 28 AAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 140 AAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 (A)15=0.999989 del(A)7=0.000011
1000Genomes Global Study-wide 5008 (A)15=0.6502 delA=0.3498
1000Genomes African Sub 1322 (A)15=0.7496 delA=0.2504
1000Genomes East Asian Sub 1008 (A)15=0.6359 delA=0.3641
1000Genomes Europe Sub 1006 (A)15=0.5726 delA=0.4274
1000Genomes South Asian Sub 978 (A)15=0.591 delA=0.409
1000Genomes American Sub 694 (A)15=0.677 delA=0.323
Allele Frequency Aggregator Total Global 4780 (A)15=1.0000 del(A)7=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000
Allele Frequency Aggregator European Sub 3742 (A)15=1.0000 del(A)7=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000
Allele Frequency Aggregator African Sub 610 (A)15=1.000 del(A)7=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000
Allele Frequency Aggregator Latin American 2 Sub 190 (A)15=1.000 del(A)7=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000
Allele Frequency Aggregator Other Sub 140 (A)15=1.000 del(A)7=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000
Allele Frequency Aggregator Latin American 1 Sub 48 (A)15=1.00 del(A)7=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00
Allele Frequency Aggregator South Asian Sub 28 (A)15=1.00 del(A)7=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00
Allele Frequency Aggregator Asian Sub 22 (A)15=1.00 del(A)7=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00
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.96991909_96991915del
GRCh38.p14 chr 7 NC_000007.14:g.96991912_96991915del
GRCh38.p14 chr 7 NC_000007.14:g.96991913_96991915del
GRCh38.p14 chr 7 NC_000007.14:g.96991914_96991915del
GRCh38.p14 chr 7 NC_000007.14:g.96991915del
GRCh38.p14 chr 7 NC_000007.14:g.96991915dup
GRCh38.p14 chr 7 NC_000007.14:g.96991914_96991915dup
GRCh38.p14 chr 7 NC_000007.14:g.96991913_96991915dup
GRCh38.p14 chr 7 NC_000007.14:g.96991912_96991915dup
GRCh38.p14 chr 7 NC_000007.14:g.96991911_96991915dup
GRCh38.p14 chr 7 NC_000007.14:g.96991903_96991915dup
GRCh38.p14 chr 7 NC_000007.14:g.96991902_96991915dup
GRCh37.p13 chr 7 NC_000007.13:g.96621221_96621227del
GRCh37.p13 chr 7 NC_000007.13:g.96621224_96621227del
GRCh37.p13 chr 7 NC_000007.13:g.96621225_96621227del
GRCh37.p13 chr 7 NC_000007.13:g.96621226_96621227del
GRCh37.p13 chr 7 NC_000007.13:g.96621227del
GRCh37.p13 chr 7 NC_000007.13:g.96621227dup
GRCh37.p13 chr 7 NC_000007.13:g.96621226_96621227dup
GRCh37.p13 chr 7 NC_000007.13:g.96621225_96621227dup
GRCh37.p13 chr 7 NC_000007.13:g.96621224_96621227dup
GRCh37.p13 chr 7 NC_000007.13:g.96621223_96621227dup
GRCh37.p13 chr 7 NC_000007.13:g.96621215_96621227dup
GRCh37.p13 chr 7 NC_000007.13:g.96621214_96621227dup
Gene: DLX6-AS1, DLX6 antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DLX6-AS1 transcript NR_015448.1: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)15= del(A)7 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)13 dup(A)14
GRCh38.p14 chr 7 NC_000007.14:g.96991901_96991915= NC_000007.14:g.96991909_96991915del NC_000007.14:g.96991912_96991915del NC_000007.14:g.96991913_96991915del NC_000007.14:g.96991914_96991915del NC_000007.14:g.96991915del NC_000007.14:g.96991915dup NC_000007.14:g.96991914_96991915dup NC_000007.14:g.96991913_96991915dup NC_000007.14:g.96991912_96991915dup NC_000007.14:g.96991911_96991915dup NC_000007.14:g.96991903_96991915dup NC_000007.14:g.96991902_96991915dup
GRCh37.p13 chr 7 NC_000007.13:g.96621213_96621227= NC_000007.13:g.96621221_96621227del NC_000007.13:g.96621224_96621227del NC_000007.13:g.96621225_96621227del NC_000007.13:g.96621226_96621227del NC_000007.13:g.96621227del NC_000007.13:g.96621227dup NC_000007.13:g.96621226_96621227dup NC_000007.13:g.96621225_96621227dup NC_000007.13:g.96621224_96621227dup NC_000007.13:g.96621223_96621227dup NC_000007.13:g.96621215_96621227dup NC_000007.13:g.96621214_96621227dup
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#.

62 SubSNP, 30 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss79787056 Oct 12, 2018 (152)
2 HGSV ss83928541 Oct 12, 2018 (152)
3 BUSHMAN ss193934865 Jul 04, 2010 (137)
4 GMI ss287817136 May 09, 2011 (137)
5 GMI ss288859881 May 04, 2012 (137)
6 SSMP ss663811069 Apr 01, 2015 (144)
7 BILGI_BIOE ss666408940 Apr 25, 2013 (138)
8 1000GENOMES ss1377403311 Aug 21, 2014 (142)
9 EVA_UK10K_ALSPAC ss1705741587 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1705741788 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1710338482 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1710342530 Apr 01, 2015 (144)
13 SWEGEN ss3001674860 Nov 17, 2017 (151)
14 MCHAISSO ss3064266081 Nov 08, 2017 (151)
15 MCHAISSO ss3066158626 Nov 08, 2017 (151)
16 EVA_DECODE ss3720261561 Jul 13, 2019 (153)
17 EVA_DECODE ss3720261562 Jul 13, 2019 (153)
18 EVA_DECODE ss3720261563 Jul 13, 2019 (153)
19 EVA_DECODE ss3720261564 Jul 13, 2019 (153)
20 EVA_DECODE ss3720261565 Jul 13, 2019 (153)
21 EVA_DECODE ss3720261566 Jul 13, 2019 (153)
22 ACPOP ss3734885748 Jul 13, 2019 (153)
23 ACPOP ss3734885749 Jul 13, 2019 (153)
24 ACPOP ss3734885750 Jul 13, 2019 (153)
25 PACBIO ss3785900103 Jul 13, 2019 (153)
26 KHV_HUMAN_GENOMES ss3810074666 Jul 13, 2019 (153)
27 EVA ss3830713006 Apr 26, 2020 (154)
28 GNOMAD ss4169030537 Apr 26, 2021 (155)
29 GNOMAD ss4169030538 Apr 26, 2021 (155)
30 GNOMAD ss4169030539 Apr 26, 2021 (155)
31 GNOMAD ss4169030540 Apr 26, 2021 (155)
32 GNOMAD ss4169030541 Apr 26, 2021 (155)
33 GNOMAD ss4169030542 Apr 26, 2021 (155)
34 GNOMAD ss4169030543 Apr 26, 2021 (155)
35 GNOMAD ss4169030544 Apr 26, 2021 (155)
36 GNOMAD ss4169030545 Apr 26, 2021 (155)
37 GNOMAD ss4169030546 Apr 26, 2021 (155)
38 TOPMED ss4755913667 Apr 26, 2021 (155)
39 TOMMO_GENOMICS ss5184569605 Apr 26, 2021 (155)
40 TOMMO_GENOMICS ss5184569606 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5184569607 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5184569608 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5184569609 Apr 26, 2021 (155)
44 1000G_HIGH_COVERAGE ss5273961607 Oct 13, 2022 (156)
45 1000G_HIGH_COVERAGE ss5273961608 Oct 13, 2022 (156)
46 1000G_HIGH_COVERAGE ss5273961609 Oct 13, 2022 (156)
47 1000G_HIGH_COVERAGE ss5273961610 Oct 13, 2022 (156)
48 1000G_HIGH_COVERAGE ss5273961611 Oct 13, 2022 (156)
49 1000G_HIGH_COVERAGE ss5273961612 Oct 13, 2022 (156)
50 HUGCELL_USP ss5470941472 Oct 13, 2022 (156)
51 HUGCELL_USP ss5470941473 Oct 13, 2022 (156)
52 HUGCELL_USP ss5470941474 Oct 13, 2022 (156)
53 HUGCELL_USP ss5470941475 Oct 13, 2022 (156)
54 HUGCELL_USP ss5470941476 Oct 13, 2022 (156)
55 TOMMO_GENOMICS ss5725249534 Oct 13, 2022 (156)
56 TOMMO_GENOMICS ss5725249535 Oct 13, 2022 (156)
57 TOMMO_GENOMICS ss5725249536 Oct 13, 2022 (156)
58 TOMMO_GENOMICS ss5725249537 Oct 13, 2022 (156)
59 TOMMO_GENOMICS ss5725249539 Oct 13, 2022 (156)
60 EVA ss5823228916 Oct 13, 2022 (156)
61 EVA ss5823228917 Oct 13, 2022 (156)
62 EVA ss5860011247 Oct 13, 2022 (156)
63 1000Genomes NC_000007.13 - 96621213 Oct 12, 2018 (152)
64 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 21298806 (NC_000007.13:96621212:A: 1554/3854)
Row 21298807 (NC_000007.13:96621212::AAA 129/3854)

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

Submission ignored due to conflicting rows:
Row 21298806 (NC_000007.13:96621212:A: 1554/3854)
Row 21298807 (NC_000007.13:96621212::AAA 129/3854)

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

Submission ignored due to conflicting rows:
Row 270072897 (NC_000007.14:96991900::A 22072/114584)
Row 270072898 (NC_000007.14:96991900::AA 2100/114730)
Row 270072899 (NC_000007.14:96991900::AAA 4106/114706)...

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

Submission ignored due to conflicting rows:
Row 270072897 (NC_000007.14:96991900::A 22072/114584)
Row 270072898 (NC_000007.14:96991900::AA 2100/114730)
Row 270072899 (NC_000007.14:96991900::AAA 4106/114706)...

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

Submission ignored due to conflicting rows:
Row 270072897 (NC_000007.14:96991900::A 22072/114584)
Row 270072898 (NC_000007.14:96991900::AA 2100/114730)
Row 270072899 (NC_000007.14:96991900::AAA 4106/114706)...

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

Submission ignored due to conflicting rows:
Row 270072897 (NC_000007.14:96991900::A 22072/114584)
Row 270072898 (NC_000007.14:96991900::AA 2100/114730)
Row 270072899 (NC_000007.14:96991900::AAA 4106/114706)...

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

Submission ignored due to conflicting rows:
Row 270072897 (NC_000007.14:96991900::A 22072/114584)
Row 270072898 (NC_000007.14:96991900::AA 2100/114730)
Row 270072899 (NC_000007.14:96991900::AAA 4106/114706)...

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

Submission ignored due to conflicting rows:
Row 270072897 (NC_000007.14:96991900::A 22072/114584)
Row 270072898 (NC_000007.14:96991900::AA 2100/114730)
Row 270072899 (NC_000007.14:96991900::AAA 4106/114706)...

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

Submission ignored due to conflicting rows:
Row 270072897 (NC_000007.14:96991900::A 22072/114584)
Row 270072898 (NC_000007.14:96991900::AA 2100/114730)
Row 270072899 (NC_000007.14:96991900::AAA 4106/114706)...

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

Submission ignored due to conflicting rows:
Row 270072897 (NC_000007.14:96991900::A 22072/114584)
Row 270072898 (NC_000007.14:96991900::AA 2100/114730)
Row 270072899 (NC_000007.14:96991900::AAA 4106/114706)...

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

Submission ignored due to conflicting rows:
Row 270072897 (NC_000007.14:96991900::A 22072/114584)
Row 270072898 (NC_000007.14:96991900::AA 2100/114730)
Row 270072899 (NC_000007.14:96991900::AAA 4106/114706)...

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

Submission ignored due to conflicting rows:
Row 270072897 (NC_000007.14:96991900::A 22072/114584)
Row 270072898 (NC_000007.14:96991900::AA 2100/114730)
Row 270072899 (NC_000007.14:96991900::AAA 4106/114706)...

- Apr 26, 2021 (155)
76 Northern Sweden

Submission ignored due to conflicting rows:
Row 8170613 (NC_000007.13:96621212:A: 190/538)
Row 8170614 (NC_000007.13:96621212::A 35/538)
Row 8170615 (NC_000007.13:96621212::AAA 8/538)

- Jul 13, 2019 (153)
77 Northern Sweden

Submission ignored due to conflicting rows:
Row 8170613 (NC_000007.13:96621212:A: 190/538)
Row 8170614 (NC_000007.13:96621212::A 35/538)
Row 8170615 (NC_000007.13:96621212::AAA 8/538)

- Jul 13, 2019 (153)
78 Northern Sweden

Submission ignored due to conflicting rows:
Row 8170613 (NC_000007.13:96621212:A: 190/538)
Row 8170614 (NC_000007.13:96621212::A 35/538)
Row 8170615 (NC_000007.13:96621212::AAA 8/538)

- Jul 13, 2019 (153)
79 8.3KJPN

Submission ignored due to conflicting rows:
Row 42538912 (NC_000007.13:96621212:A: 4948/16680)
Row 42538913 (NC_000007.13:96621212::A 3296/16680)
Row 42538914 (NC_000007.13:96621212::AA 32/16680)...

- Apr 26, 2021 (155)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 42538912 (NC_000007.13:96621212:A: 4948/16680)
Row 42538913 (NC_000007.13:96621212::A 3296/16680)
Row 42538914 (NC_000007.13:96621212::AA 32/16680)...

- Apr 26, 2021 (155)
81 8.3KJPN

Submission ignored due to conflicting rows:
Row 42538912 (NC_000007.13:96621212:A: 4948/16680)
Row 42538913 (NC_000007.13:96621212::A 3296/16680)
Row 42538914 (NC_000007.13:96621212::AA 32/16680)...

- Apr 26, 2021 (155)
82 8.3KJPN

Submission ignored due to conflicting rows:
Row 42538912 (NC_000007.13:96621212:A: 4948/16680)
Row 42538913 (NC_000007.13:96621212::A 3296/16680)
Row 42538914 (NC_000007.13:96621212::AA 32/16680)...

- Apr 26, 2021 (155)
83 8.3KJPN

Submission ignored due to conflicting rows:
Row 42538912 (NC_000007.13:96621212:A: 4948/16680)
Row 42538913 (NC_000007.13:96621212::A 3296/16680)
Row 42538914 (NC_000007.13:96621212::AA 32/16680)...

- Apr 26, 2021 (155)
84 14KJPN

Submission ignored due to conflicting rows:
Row 59086638 (NC_000007.14:96991900:A: 7923/27730)
Row 59086639 (NC_000007.14:96991900:AA: 12/27730)
Row 59086640 (NC_000007.14:96991900::A 5058/27730)...

- Oct 13, 2022 (156)
85 14KJPN

Submission ignored due to conflicting rows:
Row 59086638 (NC_000007.14:96991900:A: 7923/27730)
Row 59086639 (NC_000007.14:96991900:AA: 12/27730)
Row 59086640 (NC_000007.14:96991900::A 5058/27730)...

- Oct 13, 2022 (156)
86 14KJPN

Submission ignored due to conflicting rows:
Row 59086638 (NC_000007.14:96991900:A: 7923/27730)
Row 59086639 (NC_000007.14:96991900:AA: 12/27730)
Row 59086640 (NC_000007.14:96991900::A 5058/27730)...

- Oct 13, 2022 (156)
87 14KJPN

Submission ignored due to conflicting rows:
Row 59086638 (NC_000007.14:96991900:A: 7923/27730)
Row 59086639 (NC_000007.14:96991900:AA: 12/27730)
Row 59086640 (NC_000007.14:96991900::A 5058/27730)...

- Oct 13, 2022 (156)
88 14KJPN

Submission ignored due to conflicting rows:
Row 59086638 (NC_000007.14:96991900:A: 7923/27730)
Row 59086639 (NC_000007.14:96991900:AA: 12/27730)
Row 59086640 (NC_000007.14:96991900::A 5058/27730)...

- Oct 13, 2022 (156)
89 TopMed NC_000007.14 - 96991901 Apr 26, 2021 (155)
90 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 21298806 (NC_000007.13:96621212:A: 1500/3708)
Row 21298807 (NC_000007.13:96621212::AAA 138/3708)

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

Submission ignored due to conflicting rows:
Row 21298806 (NC_000007.13:96621212:A: 1500/3708)
Row 21298807 (NC_000007.13:96621212::AAA 138/3708)

- Oct 12, 2018 (152)
92 ALFA NC_000007.14 - 96991901 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)
rs112821062 May 11, 2012 (137)
rs374424462 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
593291226, ss4755913667 NC_000007.14:96991900:AAAAAAA: NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAA

(self)
8468317409 NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAA

NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAA

(self)
ss4169030546, ss5273961612, ss5470941476 NC_000007.14:96991900:AAAA: NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
8468317409 NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss3720261566, ss4169030545 NC_000007.14:96991900:AAA: NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
8468317409 NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3001674860, ss5184569608 NC_000007.13:96621212:AA: NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4169030544, ss5273961610, ss5725249535 NC_000007.14:96991900:AA: NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
8468317409 NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3720261565 NC_000007.14:96991901:AA: NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss288859881 NC_000007.12:96459148:A: NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
38273482, ss663811069, ss666408940, ss1377403311, ss1705741587, ss1705741788, ss3734885748, ss3785900103, ss5184569605, ss5823228916 NC_000007.13:96621212:A: NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3064266081, ss3066158626, ss3810074666, ss4169030543, ss5273961608, ss5470941472, ss5725249534, ss5860011247 NC_000007.14:96991900:A: NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
8468317409 NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3720261564 NC_000007.14:96991902:A: NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss287817136 NT_007933.15:34654055:A: NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss193934865 NT_007933.16:34485121:A: NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3734885749, ss3830713006, ss5184569606 NC_000007.13:96621212::A NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4169030537, ss5273961607, ss5470941473, ss5725249536 NC_000007.14:96991900::A NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
8468317409 NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3720261563 NC_000007.14:96991903::A NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss79787056, ss83928541 NT_007933.15:34654070::A NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5184569607 NC_000007.13:96621212::AA NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4169030538, ss5273961609, ss5470941474, ss5725249537 NC_000007.14:96991900::AA NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
8468317409 NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3720261562 NC_000007.14:96991903::AA NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3734885750, ss5184569609, ss5823228917 NC_000007.13:96621212::AAA NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss1710338482, ss1710342530 NC_000007.13:96621213::AAA NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4169030539, ss5273961611, ss5470941475, ss5725249539 NC_000007.14:96991900::AAA NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
8468317409 NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3720261561 NC_000007.14:96991903::AAA NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4169030540 NC_000007.14:96991900::AAAA NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
8468317409 NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
8468317409 NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4169030541 NC_000007.14:96991900::AAAAAAAAAAA…

NC_000007.14:96991900::AAAAAAAAAAAAA

NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4169030542 NC_000007.14:96991900::AAAAAAAAAAA…

NC_000007.14:96991900::AAAAAAAAAAAAAA

NC_000007.14:96991900:AAAAAAAAAAAA…

NC_000007.14:96991900:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs71980200

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