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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.

rs140062889

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:96990612-96990632 (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(CA)6 / del(CA)5 / del(CA)4 / d…

del(CA)6 / del(CA)5 / del(CA)4 / del(CA)3 / delCACA / delCA / dupCA / dupCACA / dup(CA)3 / dup(CA)4

Variation Type
Indel Insertion and Deletion
Frequency
del(CA)3=0.04846 (588/12134, ALFA)
del(CA)3=0.1126 (485/4306, 1000G)
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 12134 ACACACACACACACACACACA=0.94033 ACACACACA=0.00000, ACACACACACA=0.00000, ACACACACACACA=0.00000, ACACACACACACACA=0.04846, ACACACACACACACACACACACA=0.00890, ACACACACACACACACACA=0.00223, ACACACACACACACACA=0.00008, ACACACACACACACACACACACACA=0.00000, ACACACACACACACACACACACACACA=0.00000, ACACACACACACACACACACACACACACA=0.00000 0.910853 0.006572 0.082575 28
European Sub 9764 ACACACACACACACACACACA=0.9262 ACACACACA=0.0000, ACACACACACA=0.0000, ACACACACACACA=0.0000, ACACACACACACACA=0.0600, ACACACACACACACACACACACA=0.0110, ACACACACACACACACACA=0.0028, ACACACACACACACACA=0.0001, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACA=0.0000 0.889053 0.008211 0.102737 18
African Sub 1502 ACACACACACACACACACACA=1.0000 ACACACACA=0.0000, ACACACACACA=0.0000, ACACACACACACA=0.0000, ACACACACACACACA=0.0000, ACACACACACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 48 ACACACACACACACACACACA=1.00 ACACACACA=0.00, ACACACACACA=0.00, ACACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
African American Sub 1454 ACACACACACACACACACACA=1.0000 ACACACACA=0.0000, ACACACACACA=0.0000, ACACACACACACA=0.0000, ACACACACACACACA=0.0000, ACACACACACACACACACACACA=0.0000, ACACACACACACACACACA=0.0000, ACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 60 ACACACACACACACACACACA=1.00 ACACACACA=0.00, ACACACACACA=0.00, ACACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 46 ACACACACACACACACACACA=1.00 ACACACACA=0.00, ACACACACACA=0.00, ACACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 14 ACACACACACACACACACACA=1.00 ACACACACA=0.00, ACACACACACA=0.00, ACACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 82 ACACACACACACACACACACA=1.00 ACACACACA=0.00, ACACACACACA=0.00, ACACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 368 ACACACACACACACACACACA=1.000 ACACACACA=0.000, ACACACACACA=0.000, ACACACACACACA=0.000, ACACACACACACACA=0.000, ACACACACACACACACACACACA=0.000, ACACACACACACACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 60 ACACACACACACACACACACA=1.00 ACACACACA=0.00, ACACACACACA=0.00, ACACACACACACA=0.00, ACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACA=0.00, ACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00 1.0 0.0 0.0 N/A
Other Sub 298 ACACACACACACACACACACA=0.990 ACACACACA=0.000, ACACACACACA=0.000, ACACACACACACA=0.000, ACACACACACACACA=0.007, ACACACACACACACACACACACA=0.003, ACACACACACACACACACA=0.000, ACACACACACACACACA=0.000, ACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACA=0.000, ACACACACACACACACACACACACACACA=0.000 0.986486 0.0 0.013514 0


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 12134 (AC)10A=0.94033 del(CA)6=0.00000, del(CA)5=0.00000, del(CA)4=0.00000, del(CA)3=0.04846, delCACA=0.00008, delCA=0.00223, dupCA=0.00890, dupCACA=0.00000, dup(CA)3=0.00000, dup(CA)4=0.00000
Allele Frequency Aggregator European Sub 9764 (AC)10A=0.9262 del(CA)6=0.0000, del(CA)5=0.0000, del(CA)4=0.0000, del(CA)3=0.0600, delCACA=0.0001, delCA=0.0028, dupCA=0.0110, dupCACA=0.0000, dup(CA)3=0.0000, dup(CA)4=0.0000
Allele Frequency Aggregator African Sub 1502 (AC)10A=1.0000 del(CA)6=0.0000, del(CA)5=0.0000, del(CA)4=0.0000, del(CA)3=0.0000, delCACA=0.0000, delCA=0.0000, dupCA=0.0000, dupCACA=0.0000, dup(CA)3=0.0000, dup(CA)4=0.0000
Allele Frequency Aggregator Latin American 2 Sub 368 (AC)10A=1.000 del(CA)6=0.000, del(CA)5=0.000, del(CA)4=0.000, del(CA)3=0.000, delCACA=0.000, delCA=0.000, dupCA=0.000, dupCACA=0.000, dup(CA)3=0.000, dup(CA)4=0.000
Allele Frequency Aggregator Other Sub 298 (AC)10A=0.990 del(CA)6=0.000, del(CA)5=0.000, del(CA)4=0.000, del(CA)3=0.007, delCACA=0.000, delCA=0.000, dupCA=0.003, dupCACA=0.000, dup(CA)3=0.000, dup(CA)4=0.000
Allele Frequency Aggregator Latin American 1 Sub 82 (AC)10A=1.00 del(CA)6=0.00, del(CA)5=0.00, del(CA)4=0.00, del(CA)3=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)3=0.00, dup(CA)4=0.00
Allele Frequency Aggregator South Asian Sub 60 (AC)10A=1.00 del(CA)6=0.00, del(CA)5=0.00, del(CA)4=0.00, del(CA)3=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)3=0.00, dup(CA)4=0.00
Allele Frequency Aggregator Asian Sub 60 (AC)10A=1.00 del(CA)6=0.00, del(CA)5=0.00, del(CA)4=0.00, del(CA)3=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)3=0.00, dup(CA)4=0.00
1000Genomes Global Study-wide 4306 (AC)10A=0.8874 del(CA)3=0.1126
1000Genomes African Sub 1038 (AC)10A=0.9326 del(CA)3=0.0674
1000Genomes Europe Sub 987 (AC)10A=0.861 del(CA)3=0.139
1000Genomes South Asian Sub 931 (AC)10A=0.824 del(CA)3=0.176
1000Genomes East Asian Sub 746 (AC)10A=0.966 del(CA)3=0.034
1000Genomes American Sub 604 (AC)10A=0.853 del(CA)3=0.147
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.96990613CA[4]
GRCh38.p14 chr 7 NC_000007.14:g.96990613CA[5]
GRCh38.p14 chr 7 NC_000007.14:g.96990613CA[6]
GRCh38.p14 chr 7 NC_000007.14:g.96990613CA[7]
GRCh38.p14 chr 7 NC_000007.14:g.96990613CA[8]
GRCh38.p14 chr 7 NC_000007.14:g.96990613CA[9]
GRCh38.p14 chr 7 NC_000007.14:g.96990613CA[11]
GRCh38.p14 chr 7 NC_000007.14:g.96990613CA[12]
GRCh38.p14 chr 7 NC_000007.14:g.96990613CA[13]
GRCh38.p14 chr 7 NC_000007.14:g.96990613CA[14]
GRCh37.p13 chr 7 NC_000007.13:g.96619925CA[4]
GRCh37.p13 chr 7 NC_000007.13:g.96619925CA[5]
GRCh37.p13 chr 7 NC_000007.13:g.96619925CA[6]
GRCh37.p13 chr 7 NC_000007.13:g.96619925CA[7]
GRCh37.p13 chr 7 NC_000007.13:g.96619925CA[8]
GRCh37.p13 chr 7 NC_000007.13:g.96619925CA[9]
GRCh37.p13 chr 7 NC_000007.13:g.96619925CA[11]
GRCh37.p13 chr 7 NC_000007.13:g.96619925CA[12]
GRCh37.p13 chr 7 NC_000007.13:g.96619925CA[13]
GRCh37.p13 chr 7 NC_000007.13:g.96619925CA[14]
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 (AC)10A= del(CA)6 del(CA)5 del(CA)4 del(CA)3 delCACA delCA dupCA dupCACA dup(CA)3 dup(CA)4
GRCh38.p14 chr 7 NC_000007.14:g.96990612_96990632= NC_000007.14:g.96990613CA[4] NC_000007.14:g.96990613CA[5] NC_000007.14:g.96990613CA[6] NC_000007.14:g.96990613CA[7] NC_000007.14:g.96990613CA[8] NC_000007.14:g.96990613CA[9] NC_000007.14:g.96990613CA[11] NC_000007.14:g.96990613CA[12] NC_000007.14:g.96990613CA[13] NC_000007.14:g.96990613CA[14]
GRCh37.p13 chr 7 NC_000007.13:g.96619924_96619944= NC_000007.13:g.96619925CA[4] NC_000007.13:g.96619925CA[5] NC_000007.13:g.96619925CA[6] NC_000007.13:g.96619925CA[7] NC_000007.13:g.96619925CA[8] NC_000007.13:g.96619925CA[9] NC_000007.13:g.96619925CA[11] NC_000007.13:g.96619925CA[12] NC_000007.13:g.96619925CA[13] NC_000007.13:g.96619925CA[14]
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#.

79 SubSNP, 36 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4477956 Oct 12, 2018 (152)
2 HGSV ss79950837 Oct 12, 2018 (152)
3 HGSV ss79982468 Oct 12, 2018 (152)
4 GMI ss288859876 May 04, 2012 (137)
5 GMI ss288859877 Oct 12, 2018 (152)
6 1000GENOMES ss327020824 May 09, 2011 (134)
7 1000GENOMES ss327315643 May 09, 2011 (134)
8 LUNTER ss551764311 Apr 25, 2013 (138)
9 LUNTER ss551968493 Apr 25, 2013 (138)
10 SSMP ss663811065 Apr 01, 2015 (144)
11 1000GENOMES ss1377403293 Aug 21, 2014 (142)
12 1000GENOMES ss1377403296 Aug 21, 2014 (142)
13 1000GENOMES ss1377403299 Aug 21, 2014 (142)
14 DDI ss1536556517 Apr 01, 2015 (144)
15 EVA_DECODE ss1594149533 Apr 01, 2015 (144)
16 EVA_UK10K_ALSPAC ss1705741578 Apr 01, 2015 (144)
17 EVA_UK10K_TWINSUK ss1705741776 Apr 01, 2015 (144)
18 EVA_UK10K_ALSPAC ss1710338476 Apr 01, 2015 (144)
19 EVA_UK10K_TWINSUK ss1710342527 Apr 01, 2015 (144)
20 SWEGEN ss3001674845 Nov 08, 2017 (151)
21 MCHAISSO ss3065148961 Nov 08, 2017 (151)
22 MCHAISSO ss3066158624 Nov 08, 2017 (151)
23 BEROUKHIMLAB ss3644244263 Oct 12, 2018 (152)
24 EVA_DECODE ss3720261534 Jul 13, 2019 (153)
25 EVA_DECODE ss3720261535 Jul 13, 2019 (153)
26 EVA_DECODE ss3720261536 Jul 13, 2019 (153)
27 EVA_DECODE ss3720261537 Jul 13, 2019 (153)
28 EVA_DECODE ss3720261539 Jul 13, 2019 (153)
29 ACPOP ss3734885730 Jul 13, 2019 (153)
30 ACPOP ss3734885731 Jul 13, 2019 (153)
31 PACBIO ss3785900097 Jul 13, 2019 (153)
32 PACBIO ss3791189412 Jul 13, 2019 (153)
33 PACBIO ss3796069405 Jul 13, 2019 (153)
34 KHV_HUMAN_GENOMES ss3810074649 Jul 13, 2019 (153)
35 KHV_HUMAN_GENOMES ss3810074650 Jul 13, 2019 (153)
36 KHV_HUMAN_GENOMES ss3810074651 Jul 13, 2019 (153)
37 KHV_HUMAN_GENOMES ss3810074652 Jul 13, 2019 (153)
38 EVA ss3838855456 Apr 26, 2020 (154)
39 EVA ss3844310494 Apr 26, 2020 (154)
40 KOGIC ss3962145571 Apr 26, 2020 (154)
41 KOGIC ss3962145572 Apr 26, 2020 (154)
42 KOGIC ss3962145573 Apr 26, 2020 (154)
43 KOGIC ss3962145574 Apr 26, 2020 (154)
44 KOGIC ss3962145575 Apr 26, 2020 (154)
45 KOGIC ss3962145576 Apr 26, 2020 (154)
46 GNOMAD ss4169030351 Apr 26, 2021 (155)
47 GNOMAD ss4169030352 Apr 26, 2021 (155)
48 GNOMAD ss4169030353 Apr 26, 2021 (155)
49 GNOMAD ss4169030354 Apr 26, 2021 (155)
50 GNOMAD ss4169030356 Apr 26, 2021 (155)
51 GNOMAD ss4169030357 Apr 26, 2021 (155)
52 GNOMAD ss4169030358 Apr 26, 2021 (155)
53 GNOMAD ss4169030359 Apr 26, 2021 (155)
54 GNOMAD ss4169030360 Apr 26, 2021 (155)
55 TOMMO_GENOMICS ss5184569556 Apr 26, 2021 (155)
56 TOMMO_GENOMICS ss5184569557 Apr 26, 2021 (155)
57 TOMMO_GENOMICS ss5184569558 Apr 26, 2021 (155)
58 TOMMO_GENOMICS ss5184569559 Apr 26, 2021 (155)
59 TOMMO_GENOMICS ss5184569560 Apr 26, 2021 (155)
60 TOMMO_GENOMICS ss5184569561 Apr 26, 2021 (155)
61 1000G_HIGH_COVERAGE ss5273961569 Oct 13, 2022 (156)
62 1000G_HIGH_COVERAGE ss5273961570 Oct 13, 2022 (156)
63 1000G_HIGH_COVERAGE ss5273961571 Oct 13, 2022 (156)
64 1000G_HIGH_COVERAGE ss5273961572 Oct 13, 2022 (156)
65 1000G_HIGH_COVERAGE ss5273961573 Oct 13, 2022 (156)
66 1000G_HIGH_COVERAGE ss5273961574 Oct 13, 2022 (156)
67 HUGCELL_USP ss5470941438 Oct 13, 2022 (156)
68 HUGCELL_USP ss5470941439 Oct 13, 2022 (156)
69 HUGCELL_USP ss5470941440 Oct 13, 2022 (156)
70 HUGCELL_USP ss5470941441 Oct 13, 2022 (156)
71 HUGCELL_USP ss5470941442 Oct 13, 2022 (156)
72 HUGCELL_USP ss5470941443 Oct 13, 2022 (156)
73 TOMMO_GENOMICS ss5725249483 Oct 13, 2022 (156)
74 TOMMO_GENOMICS ss5725249484 Oct 13, 2022 (156)
75 TOMMO_GENOMICS ss5725249485 Oct 13, 2022 (156)
76 TOMMO_GENOMICS ss5725249486 Oct 13, 2022 (156)
77 TOMMO_GENOMICS ss5725249487 Oct 13, 2022 (156)
78 EVA ss5823228905 Oct 13, 2022 (156)
79 EVA ss5823228906 Oct 13, 2022 (156)
80 1000Genomes NC_000007.13 - 96619924 Oct 12, 2018 (152)
81 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 21298787 (NC_000007.13:96619923:ACACAC: 558/3854)
Row 21298788 (NC_000007.13:96619923::AC 361/3854)

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

Submission ignored due to conflicting rows:
Row 21298787 (NC_000007.13:96619923:ACACAC: 558/3854)
Row 21298788 (NC_000007.13:96619923::AC 361/3854)

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

Submission ignored due to conflicting rows:
Row 270072622 (NC_000007.14:96990611::AC 5865/137434)
Row 270072623 (NC_000007.14:96990611::ACAC 19/137486)
Row 270072624 (NC_000007.14:96990611::ACACAC 464/137482)...

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

Submission ignored due to conflicting rows:
Row 270072622 (NC_000007.14:96990611::AC 5865/137434)
Row 270072623 (NC_000007.14:96990611::ACAC 19/137486)
Row 270072624 (NC_000007.14:96990611::ACACAC 464/137482)...

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

Submission ignored due to conflicting rows:
Row 270072622 (NC_000007.14:96990611::AC 5865/137434)
Row 270072623 (NC_000007.14:96990611::ACAC 19/137486)
Row 270072624 (NC_000007.14:96990611::ACACAC 464/137482)...

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

Submission ignored due to conflicting rows:
Row 270072622 (NC_000007.14:96990611::AC 5865/137434)
Row 270072623 (NC_000007.14:96990611::ACAC 19/137486)
Row 270072624 (NC_000007.14:96990611::ACACAC 464/137482)...

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

Submission ignored due to conflicting rows:
Row 270072622 (NC_000007.14:96990611::AC 5865/137434)
Row 270072623 (NC_000007.14:96990611::ACAC 19/137486)
Row 270072624 (NC_000007.14:96990611::ACACAC 464/137482)...

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

Submission ignored due to conflicting rows:
Row 270072622 (NC_000007.14:96990611::AC 5865/137434)
Row 270072623 (NC_000007.14:96990611::ACAC 19/137486)
Row 270072624 (NC_000007.14:96990611::ACACAC 464/137482)...

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

Submission ignored due to conflicting rows:
Row 270072622 (NC_000007.14:96990611::AC 5865/137434)
Row 270072623 (NC_000007.14:96990611::ACAC 19/137486)
Row 270072624 (NC_000007.14:96990611::ACACAC 464/137482)...

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

Submission ignored due to conflicting rows:
Row 270072622 (NC_000007.14:96990611::AC 5865/137434)
Row 270072623 (NC_000007.14:96990611::ACAC 19/137486)
Row 270072624 (NC_000007.14:96990611::ACACAC 464/137482)...

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

Submission ignored due to conflicting rows:
Row 270072622 (NC_000007.14:96990611::AC 5865/137434)
Row 270072623 (NC_000007.14:96990611::ACAC 19/137486)
Row 270072624 (NC_000007.14:96990611::ACACAC 464/137482)...

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

Submission ignored due to conflicting rows:
Row 18523572 (NC_000007.14:96990619::AC 614/1832)
Row 18523573 (NC_000007.14:96990613:ACACAC: 43/1832)
Row 18523574 (NC_000007.14:96990617:AC: 16/1832)...

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

Submission ignored due to conflicting rows:
Row 18523572 (NC_000007.14:96990619::AC 614/1832)
Row 18523573 (NC_000007.14:96990613:ACACAC: 43/1832)
Row 18523574 (NC_000007.14:96990617:AC: 16/1832)...

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

Submission ignored due to conflicting rows:
Row 18523572 (NC_000007.14:96990619::AC 614/1832)
Row 18523573 (NC_000007.14:96990613:ACACAC: 43/1832)
Row 18523574 (NC_000007.14:96990617:AC: 16/1832)...

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

Submission ignored due to conflicting rows:
Row 18523572 (NC_000007.14:96990619::AC 614/1832)
Row 18523573 (NC_000007.14:96990613:ACACAC: 43/1832)
Row 18523574 (NC_000007.14:96990617:AC: 16/1832)...

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

Submission ignored due to conflicting rows:
Row 18523572 (NC_000007.14:96990619::AC 614/1832)
Row 18523573 (NC_000007.14:96990613:ACACAC: 43/1832)
Row 18523574 (NC_000007.14:96990617:AC: 16/1832)...

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

Submission ignored due to conflicting rows:
Row 18523572 (NC_000007.14:96990619::AC 614/1832)
Row 18523573 (NC_000007.14:96990613:ACACAC: 43/1832)
Row 18523574 (NC_000007.14:96990617:AC: 16/1832)...

- Apr 26, 2020 (154)
98 Northern Sweden

Submission ignored due to conflicting rows:
Row 8170595 (NC_000007.13:96619923:ACACAC: 115/600)
Row 8170596 (NC_000007.13:96619923::AC 11/600)

- Jul 13, 2019 (153)
99 Northern Sweden

Submission ignored due to conflicting rows:
Row 8170595 (NC_000007.13:96619923:ACACAC: 115/600)
Row 8170596 (NC_000007.13:96619923::AC 11/600)

- Jul 13, 2019 (153)
100 8.3KJPN

Submission ignored due to conflicting rows:
Row 42538863 (NC_000007.13:96619923::AC 5745/16758)
Row 42538864 (NC_000007.13:96619923:AC: 15/16758)
Row 42538865 (NC_000007.13:96619923:ACACAC: 277/16758)...

- Apr 26, 2021 (155)
101 8.3KJPN

Submission ignored due to conflicting rows:
Row 42538863 (NC_000007.13:96619923::AC 5745/16758)
Row 42538864 (NC_000007.13:96619923:AC: 15/16758)
Row 42538865 (NC_000007.13:96619923:ACACAC: 277/16758)...

- Apr 26, 2021 (155)
102 8.3KJPN

Submission ignored due to conflicting rows:
Row 42538863 (NC_000007.13:96619923::AC 5745/16758)
Row 42538864 (NC_000007.13:96619923:AC: 15/16758)
Row 42538865 (NC_000007.13:96619923:ACACAC: 277/16758)...

- Apr 26, 2021 (155)
103 8.3KJPN

Submission ignored due to conflicting rows:
Row 42538863 (NC_000007.13:96619923::AC 5745/16758)
Row 42538864 (NC_000007.13:96619923:AC: 15/16758)
Row 42538865 (NC_000007.13:96619923:ACACAC: 277/16758)...

- Apr 26, 2021 (155)
104 8.3KJPN

Submission ignored due to conflicting rows:
Row 42538863 (NC_000007.13:96619923::AC 5745/16758)
Row 42538864 (NC_000007.13:96619923:AC: 15/16758)
Row 42538865 (NC_000007.13:96619923:ACACAC: 277/16758)...

- Apr 26, 2021 (155)
105 8.3KJPN

Submission ignored due to conflicting rows:
Row 42538863 (NC_000007.13:96619923::AC 5745/16758)
Row 42538864 (NC_000007.13:96619923:AC: 15/16758)
Row 42538865 (NC_000007.13:96619923:ACACAC: 277/16758)...

- Apr 26, 2021 (155)
106 14KJPN

Submission ignored due to conflicting rows:
Row 59086587 (NC_000007.14:96990611::AC 9703/28258)
Row 59086588 (NC_000007.14:96990611:ACACAC: 450/28258)
Row 59086589 (NC_000007.14:96990611::ACAC 30/28258)...

- Oct 13, 2022 (156)
107 14KJPN

Submission ignored due to conflicting rows:
Row 59086587 (NC_000007.14:96990611::AC 9703/28258)
Row 59086588 (NC_000007.14:96990611:ACACAC: 450/28258)
Row 59086589 (NC_000007.14:96990611::ACAC 30/28258)...

- Oct 13, 2022 (156)
108 14KJPN

Submission ignored due to conflicting rows:
Row 59086587 (NC_000007.14:96990611::AC 9703/28258)
Row 59086588 (NC_000007.14:96990611:ACACAC: 450/28258)
Row 59086589 (NC_000007.14:96990611::ACAC 30/28258)...

- Oct 13, 2022 (156)
109 14KJPN

Submission ignored due to conflicting rows:
Row 59086587 (NC_000007.14:96990611::AC 9703/28258)
Row 59086588 (NC_000007.14:96990611:ACACAC: 450/28258)
Row 59086589 (NC_000007.14:96990611::ACAC 30/28258)...

- Oct 13, 2022 (156)
110 14KJPN

Submission ignored due to conflicting rows:
Row 59086587 (NC_000007.14:96990611::AC 9703/28258)
Row 59086588 (NC_000007.14:96990611:ACACAC: 450/28258)
Row 59086589 (NC_000007.14:96990611::ACAC 30/28258)...

- Oct 13, 2022 (156)
111 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 21298787 (NC_000007.13:96619923:ACACAC: 517/3708)
Row 21298788 (NC_000007.13:96619923::AC 354/3708)

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

Submission ignored due to conflicting rows:
Row 21298787 (NC_000007.13:96619923:ACACAC: 517/3708)
Row 21298788 (NC_000007.13:96619923::AC 354/3708)

- Oct 12, 2018 (152)
113 A Vietnamese Genetic Variation Database

Submission ignored due to conflicting rows:
Row 4750536 (NC_000007.13:96619923::AC 56/211)
Row 4750537 (NC_000007.13:96619923:ACACAC: 3/158)

- Jul 13, 2019 (153)
114 A Vietnamese Genetic Variation Database

Submission ignored due to conflicting rows:
Row 4750536 (NC_000007.13:96619923::AC 56/211)
Row 4750537 (NC_000007.13:96619923:ACACAC: 3/158)

- Jul 13, 2019 (153)
115 ALFA NC_000007.14 - 96990612 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
10429066103 NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACA

NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACA

(self)
ss4169030360 NC_000007.14:96990611:ACACACACAC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACA

(self)
10429066103 NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACA

NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACA

(self)
ss3962145575, ss4169030359, ss5273961574, ss5470941443 NC_000007.14:96990611:ACACACAC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACA

(self)
10429066103 NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACA

NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACA

(self)
ss288859876, ss327020824, ss551764311 NC_000007.12:96457859:ACACAC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACA

(self)
38273451, ss1377403293, ss1536556517, ss1705741578, ss1705741776, ss3001674845, ss3644244263, ss3734885730, ss3785900097, ss3791189412, ss3796069405, ss3838855456, ss5184569558, ss5823228905 NC_000007.13:96619923:ACACAC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACA

(self)
ss3065148961, ss3720261537, ss3810074650, ss3844310494, ss4169030358, ss5273961571, ss5470941438, ss5725249484 NC_000007.14:96990611:ACACAC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACA

(self)
10429066103 NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACA

NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACA

(self)
ss3962145572 NC_000007.14:96990613:ACACAC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACA

(self)
ss327315643, ss551968493 NC_000007.12:96457859:ACAC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACA

(self)
ss5184569560 NC_000007.13:96619923:ACAC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACA

(self)
ss1377403296 NC_000007.13:96619925:ACAC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACA

(self)
ss3066158624, ss4169030357, ss5273961569, ss5470941440, ss5725249487 NC_000007.14:96990611:ACAC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACA

(self)
10429066103 NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACA

NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACA

(self)
ss3720261536, ss3810074649 NC_000007.14:96990613:ACAC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACA

(self)
ss3962145576 NC_000007.14:96990615:ACAC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACA

(self)
ss5184569557 NC_000007.13:96619923:AC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACA

(self)
ss4169030356, ss5273961570, ss5470941439, ss5725249486 NC_000007.14:96990611:AC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACA

(self)
10429066103 NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACA

NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACA

(self)
ss3720261535 NC_000007.14:96990615:AC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACA

(self)
ss3962145573 NC_000007.14:96990617:AC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACA

(self)
ss1594149533 NC_000007.12:96457879::AC NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACA

(self)
ss288859877 NC_000007.12:96457880::CA NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACA

(self)
ss663811065, ss3734885731, ss5184569556, ss5823228906 NC_000007.13:96619923::AC NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACA

(self)
ss1377403299, ss1710338476, ss1710342527 NC_000007.13:96619929::AC NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACA

(self)
ss3810074651, ss4169030351, ss5273961572, ss5470941441, ss5725249483 NC_000007.14:96990611::AC NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACA

(self)
10429066103 NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACA

NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACA

(self)
ss3720261534, ss3810074652 NC_000007.14:96990617::AC NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACA

(self)
ss3962145571 NC_000007.14:96990619::AC NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACA

(self)
ss3720261539 NC_000007.14:96990632::CA NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACA

(self)
ss4477956, ss79950837, ss79982468 NT_007933.15:34652787::CA NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACA

(self)
ss5184569559 NC_000007.13:96619923::ACAC NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
ss4169030352, ss5725249485 NC_000007.14:96990611::ACAC NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
10429066103 NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACACA

NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
ss3962145574 NC_000007.14:96990619::ACAC NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACACA

(self)
ss4169030353, ss5273961573, ss5470941442 NC_000007.14:96990611::ACACAC NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACACACA

(self)
10429066103 NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACACACA

NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACACACA

(self)
ss5184569561 NC_000007.13:96619923::ACACACAC NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA

(self)
ss4169030354 NC_000007.14:96990611::ACACACAC NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA

(self)
10429066103 NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA

NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2465441070 NC_000007.13:96619923:ACACACACAC: NC_000007.14:96990611:ACACACACACAC…

NC_000007.14:96990611:ACACACACACACACACACACA:ACACACACACA

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 rs140062889

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