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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.

rs377158860

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chrX:73077723-73077752 (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(AC)8 / del(AC)5 / del(AC)4 / d…

del(AC)8 / del(AC)5 / del(AC)4 / del(AC)3 / delACAC / delAC / dupAC / dupACAC / dup(AC)3 / dup(AC)4

Variation Type
Indel Insertion and Deletion
Frequency
dup(AC)4=0.000136 (36/264690, TOPMED)
delAC=0.4491 (3087/6874, ALFA)
(AC)15=0.4972 (1877/3775, 1000G) (+ 1 more)
delACAC=0.0865 (250/2889, ALSPAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PABPC1L2A : 3 Prime UTR 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 6874 ACACACACACACACACACACACACACACAC=0.5196 ACACACACACACAC=0.0000, ACACACACACACACACACAC=0.0000, ACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACAC=0.0246, ACACACACACACACACACACACACAC=0.0028, ACACACACACACACACACACACACACAC=0.4491, ACACACACACACACACACACACACACACACAC=0.0033, ACACACACACACACACACACACACACACACACAC=0.0006, ACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACAC=0.0000 0.471825 0.392019 0.136156 32
European Sub 5492 ACACACACACACACACACACACACACACAC=0.3997 ACACACACACACAC=0.0000, ACACACACACACACACACAC=0.0000, ACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACAC=0.0308, ACACACACACACACACACACACACAC=0.0035, ACACACACACACACACACACACACACAC=0.5612, ACACACACACACACACACACACACACACACAC=0.0042, ACACACACACACACACACACACACACACACACAC=0.0007, ACACACACACACACACACACACACACACACACACAC=0.0000, ACACACACACACACACACACACACACACACACACACAC=0.0000 0.332176 0.495756 0.172068 32
African Sub 956 ACACACACACACACACACACACACACACAC=1.000 ACACACACACACAC=0.000, ACACACACACACACACACAC=0.000, ACACACACACACACACACACAC=0.000, ACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACAC=0.000 1.0 0.0 0.0 N/A
African Others Sub 38 ACACACACACACACACACACACACACACAC=1.00 ACACACACACACAC=0.00, ACACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACAC=0.00 1.0 0.0 0.0 N/A
African American Sub 918 ACACACACACACACACACACACACACACAC=1.000 ACACACACACACAC=0.000, ACACACACACACACACACAC=0.000, ACACACACACACACACACACAC=0.000, ACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACAC=0.000 1.0 0.0 0.0 N/A
Asian Sub 64 ACACACACACACACACACACACACACACAC=1.00 ACACACACACACAC=0.00, ACACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACAC=0.00 1.0 0.0 0.0 N/A
East Asian Sub 52 ACACACACACACACACACACACACACACAC=1.00 ACACACACACACAC=0.00, ACACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACAC=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 12 ACACACACACACACACACACACACACACAC=1.00 ACACACACACACAC=0.00, ACACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACAC=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 22 ACACACACACACACACACACACACACACAC=1.00 ACACACACACACAC=0.00, ACACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACAC=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 188 ACACACACACACACACACACACACACACAC=1.000 ACACACACACACAC=0.000, ACACACACACACACACACAC=0.000, ACACACACACACACACACACAC=0.000, ACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACAC=0.000 1.0 0.0 0.0 N/A
South Asian Sub 20 ACACACACACACACACACACACACACACAC=1.00 ACACACACACACAC=0.00, ACACACACACACACACACAC=0.00, ACACACACACACACACACACAC=0.00, ACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACAC=0.00, ACACACACACACACACACACACACACACACACACACAC=0.00 1.0 0.0 0.0 N/A
Other Sub 132 ACACACACACACACACACACACACACACAC=0.962 ACACACACACACAC=0.000, ACACACACACACACACACAC=0.000, ACACACACACACACACACACAC=0.000, ACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACAC=0.038, ACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACAC=0.000, ACACACACACACACACACACACACACACACACACACAC=0.000 0.954545 0.030303 0.015152 22


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 -

No frequency provided

dup(AC)4=0.000136
Allele Frequency Aggregator Total Global 6874 (AC)15=0.5196 del(AC)8=0.0000, del(AC)5=0.0000, del(AC)4=0.0000, del(AC)3=0.0246, delACAC=0.0028, delAC=0.4491, dupAC=0.0033, dupACAC=0.0006, dup(AC)3=0.0000, dup(AC)4=0.0000
Allele Frequency Aggregator European Sub 5492 (AC)15=0.3997 del(AC)8=0.0000, del(AC)5=0.0000, del(AC)4=0.0000, del(AC)3=0.0308, delACAC=0.0035, delAC=0.5612, dupAC=0.0042, dupACAC=0.0007, dup(AC)3=0.0000, dup(AC)4=0.0000
Allele Frequency Aggregator African Sub 956 (AC)15=1.000 del(AC)8=0.000, del(AC)5=0.000, del(AC)4=0.000, del(AC)3=0.000, delACAC=0.000, delAC=0.000, dupAC=0.000, dupACAC=0.000, dup(AC)3=0.000, dup(AC)4=0.000
Allele Frequency Aggregator Latin American 2 Sub 188 (AC)15=1.000 del(AC)8=0.000, del(AC)5=0.000, del(AC)4=0.000, del(AC)3=0.000, delACAC=0.000, delAC=0.000, dupAC=0.000, dupACAC=0.000, dup(AC)3=0.000, dup(AC)4=0.000
Allele Frequency Aggregator Other Sub 132 (AC)15=0.962 del(AC)8=0.000, del(AC)5=0.000, del(AC)4=0.000, del(AC)3=0.000, delACAC=0.000, delAC=0.038, dupAC=0.000, dupACAC=0.000, dup(AC)3=0.000, dup(AC)4=0.000
Allele Frequency Aggregator Asian Sub 64 (AC)15=1.00 del(AC)8=0.00, del(AC)5=0.00, del(AC)4=0.00, del(AC)3=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)3=0.00, dup(AC)4=0.00
Allele Frequency Aggregator Latin American 1 Sub 22 (AC)15=1.00 del(AC)8=0.00, del(AC)5=0.00, del(AC)4=0.00, del(AC)3=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)3=0.00, dup(AC)4=0.00
Allele Frequency Aggregator South Asian Sub 20 (AC)15=1.00 del(AC)8=0.00, del(AC)5=0.00, del(AC)4=0.00, del(AC)3=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)3=0.00, dup(AC)4=0.00
1000Genomes Global Study-wide 3775 (AC)15=0.4972 delAC=0.5028
1000Genomes African Sub 1003 (AC)15=0.7079 delAC=0.2921
1000Genomes Europe Sub 766 (AC)15=0.191 delAC=0.809
1000Genomes East Asian Sub 764 (AC)15=0.777 delAC=0.223
1000Genomes South Asian Sub 718 (AC)15=0.274 delAC=0.726
1000Genomes American Sub 524 (AC)15=0.439 delAC=0.561
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 2889 (AC)15=0.9135 delACAC=0.0865
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 X NC_000023.11:g.73077723AC[7]
GRCh38.p14 chr X NC_000023.11:g.73077723AC[10]
GRCh38.p14 chr X NC_000023.11:g.73077723AC[11]
GRCh38.p14 chr X NC_000023.11:g.73077723AC[12]
GRCh38.p14 chr X NC_000023.11:g.73077723AC[13]
GRCh38.p14 chr X NC_000023.11:g.73077723AC[14]
GRCh38.p14 chr X NC_000023.11:g.73077723AC[16]
GRCh38.p14 chr X NC_000023.11:g.73077723AC[17]
GRCh38.p14 chr X NC_000023.11:g.73077723AC[18]
GRCh38.p14 chr X NC_000023.11:g.73077723AC[19]
GRCh37.p13 chr X fix patch HG1438_PATCH NW_004070882.1:g.766740AC[7]
GRCh37.p13 chr X fix patch HG1438_PATCH NW_004070882.1:g.766740AC[10]
GRCh37.p13 chr X fix patch HG1438_PATCH NW_004070882.1:g.766740AC[11]
GRCh37.p13 chr X fix patch HG1438_PATCH NW_004070882.1:g.766740AC[12]
GRCh37.p13 chr X fix patch HG1438_PATCH NW_004070882.1:g.766740AC[13]
GRCh37.p13 chr X fix patch HG1438_PATCH NW_004070882.1:g.766740AC[14]
GRCh37.p13 chr X fix patch HG1438_PATCH NW_004070882.1:g.766740AC[16]
GRCh37.p13 chr X fix patch HG1438_PATCH NW_004070882.1:g.766740AC[17]
GRCh37.p13 chr X fix patch HG1438_PATCH NW_004070882.1:g.766740AC[18]
GRCh37.p13 chr X fix patch HG1438_PATCH NW_004070882.1:g.766740AC[19]
GRCh37.p13 chr X NC_000023.10:g.72297562AC[7]
GRCh37.p13 chr X NC_000023.10:g.72297562AC[10]
GRCh37.p13 chr X NC_000023.10:g.72297562AC[11]
GRCh37.p13 chr X NC_000023.10:g.72297562AC[12]
GRCh37.p13 chr X NC_000023.10:g.72297562AC[13]
GRCh37.p13 chr X NC_000023.10:g.72297562AC[14]
GRCh37.p13 chr X NC_000023.10:g.72297562AC[16]
GRCh37.p13 chr X NC_000023.10:g.72297562AC[17]
GRCh37.p13 chr X NC_000023.10:g.72297562AC[18]
GRCh37.p13 chr X NC_000023.10:g.72297562AC[19]
Gene: PABPC1L2A, poly(A) binding protein cytoplasmic 1 like 2A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PABPC1L2A transcript NM_001012977.3:c.*1032_*1…

NM_001012977.3:c.*1032_*1061=

N/A 3 Prime UTR 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)15= del(AC)8 del(AC)5 del(AC)4 del(AC)3 delACAC delAC dupAC dupACAC dup(AC)3 dup(AC)4
GRCh38.p14 chr X NC_000023.11:g.73077723_73077752= NC_000023.11:g.73077723AC[7] NC_000023.11:g.73077723AC[10] NC_000023.11:g.73077723AC[11] NC_000023.11:g.73077723AC[12] NC_000023.11:g.73077723AC[13] NC_000023.11:g.73077723AC[14] NC_000023.11:g.73077723AC[16] NC_000023.11:g.73077723AC[17] NC_000023.11:g.73077723AC[18] NC_000023.11:g.73077723AC[19]
GRCh37.p13 chr X fix patch HG1438_PATCH NW_004070882.1:g.766740_766769= NW_004070882.1:g.766740AC[7] NW_004070882.1:g.766740AC[10] NW_004070882.1:g.766740AC[11] NW_004070882.1:g.766740AC[12] NW_004070882.1:g.766740AC[13] NW_004070882.1:g.766740AC[14] NW_004070882.1:g.766740AC[16] NW_004070882.1:g.766740AC[17] NW_004070882.1:g.766740AC[18] NW_004070882.1:g.766740AC[19]
GRCh37.p13 chr X NC_000023.10:g.72297562_72297591= NC_000023.10:g.72297562AC[7] NC_000023.10:g.72297562AC[10] NC_000023.10:g.72297562AC[11] NC_000023.10:g.72297562AC[12] NC_000023.10:g.72297562AC[13] NC_000023.10:g.72297562AC[14] NC_000023.10:g.72297562AC[16] NC_000023.10:g.72297562AC[17] NC_000023.10:g.72297562AC[18] NC_000023.10:g.72297562AC[19]
PABPC1L2A transcript NM_001012977.3:c.*1032_*1061= NM_001012977.3:c.*1032GT[7] NM_001012977.3:c.*1032GT[10] NM_001012977.3:c.*1032GT[11] NM_001012977.3:c.*1032GT[12] NM_001012977.3:c.*1032GT[13] NM_001012977.3:c.*1032GT[14] NM_001012977.3:c.*1032GT[16] NM_001012977.3:c.*1032GT[17] NM_001012977.3:c.*1032GT[18] NM_001012977.3:c.*1032GT[19]
PABPC1L2A transcript NM_001012977.2:c.*1032_*1061= NM_001012977.2:c.*1032GT[7] NM_001012977.2:c.*1032GT[10] NM_001012977.2:c.*1032GT[11] NM_001012977.2:c.*1032GT[12] NM_001012977.2:c.*1032GT[13] NM_001012977.2:c.*1032GT[14] NM_001012977.2:c.*1032GT[16] NM_001012977.2:c.*1032GT[17] NM_001012977.2:c.*1032GT[18] NM_001012977.2:c.*1032GT[19]
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#.

49 SubSNP, 29 Frequency submissions
No Submitter Submission ID Date (Build)
1 GMI ss478844451 Oct 12, 2018 (152)
2 BILGI_BIOE ss666780589 Apr 25, 2013 (138)
3 1000GENOMES ss1554841204 Apr 09, 2015 (144)
4 EVA_UK10K_ALSPAC ss1709755548 Apr 09, 2015 (144)
5 EVA_UK10K_TWINSUK ss1709755670 Apr 09, 2015 (144)
6 EVA_UK10K_TWINSUK ss1710865505 Apr 09, 2015 (144)
7 EVA_UK10K_ALSPAC ss1710865506 Apr 09, 2015 (144)
8 TMC_SNPDB ss1997232157 Sep 28, 2016 (149)
9 TMC_SNPDB ss1997232159 Sep 28, 2016 (149)
10 TMC_SNPDB ss1997232161 Sep 28, 2016 (149)
11 SWEGEN ss3020133912 Oct 12, 2018 (152)
12 MCHAISSO ss3064370183 Nov 08, 2017 (151)
13 MCHAISSO ss3065265279 Nov 08, 2017 (151)
14 URBANLAB ss3651286441 Oct 12, 2018 (152)
15 KHV_HUMAN_GENOMES ss3823070853 Jul 13, 2019 (153)
16 EVA ss3836199035 Apr 27, 2020 (154)
17 EVA ss3841707149 Apr 27, 2020 (154)
18 EVA ss3847230597 Apr 27, 2020 (154)
19 GNOMAD ss4373406805 Apr 27, 2021 (155)
20 GNOMAD ss4373406806 Apr 27, 2021 (155)
21 GNOMAD ss4373406807 Apr 27, 2021 (155)
22 GNOMAD ss4373406808 Apr 27, 2021 (155)
23 GNOMAD ss4373406809 Apr 27, 2021 (155)
24 GNOMAD ss4373406810 Apr 27, 2021 (155)
25 GNOMAD ss4373406811 Apr 27, 2021 (155)
26 GNOMAD ss4373406812 Apr 27, 2021 (155)
27 GNOMAD ss4373406813 Apr 27, 2021 (155)
28 TOPMED ss5126433072 Apr 27, 2021 (155)
29 TOMMO_GENOMICS ss5234905516 Apr 27, 2021 (155)
30 TOMMO_GENOMICS ss5234905517 Apr 27, 2021 (155)
31 TOMMO_GENOMICS ss5234905518 Apr 27, 2021 (155)
32 TOMMO_GENOMICS ss5234905519 Apr 27, 2021 (155)
33 TOMMO_GENOMICS ss5234905520 Apr 27, 2021 (155)
34 1000G_HIGH_COVERAGE ss5312865579 Oct 17, 2022 (156)
35 1000G_HIGH_COVERAGE ss5312865580 Oct 17, 2022 (156)
36 1000G_HIGH_COVERAGE ss5312865581 Oct 17, 2022 (156)
37 1000G_HIGH_COVERAGE ss5312865582 Oct 17, 2022 (156)
38 1000G_HIGH_COVERAGE ss5312865583 Oct 17, 2022 (156)
39 HUGCELL_USP ss5504465258 Oct 17, 2022 (156)
40 HUGCELL_USP ss5504465259 Oct 17, 2022 (156)
41 HUGCELL_USP ss5504465260 Oct 17, 2022 (156)
42 HUGCELL_USP ss5504465261 Oct 17, 2022 (156)
43 HUGCELL_USP ss5504465262 Oct 17, 2022 (156)
44 TOMMO_GENOMICS ss5796864724 Oct 17, 2022 (156)
45 TOMMO_GENOMICS ss5796864725 Oct 17, 2022 (156)
46 TOMMO_GENOMICS ss5796864726 Oct 17, 2022 (156)
47 TOMMO_GENOMICS ss5796864727 Oct 17, 2022 (156)
48 TOMMO_GENOMICS ss5796864729 Oct 17, 2022 (156)
49 EVA ss5981160752 Oct 17, 2022 (156)
50 1000Genomes NC_000023.10 - 72297562 Oct 12, 2018 (152)
51 The Avon Longitudinal Study of Parents and Children NC_000023.10 - 72297562 Oct 12, 2018 (152)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 583357458 (NC_000023.11:73077722::AC 6663/91464)
Row 583357459 (NC_000023.11:73077722::ACAC 497/91556)
Row 583357460 (NC_000023.11:73077722::ACACAC 43/91565)...

- Apr 27, 2021 (155)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 583357458 (NC_000023.11:73077722::AC 6663/91464)
Row 583357459 (NC_000023.11:73077722::ACAC 497/91556)
Row 583357460 (NC_000023.11:73077722::ACACAC 43/91565)...

- Apr 27, 2021 (155)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 583357458 (NC_000023.11:73077722::AC 6663/91464)
Row 583357459 (NC_000023.11:73077722::ACAC 497/91556)
Row 583357460 (NC_000023.11:73077722::ACACAC 43/91565)...

- Apr 27, 2021 (155)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 583357458 (NC_000023.11:73077722::AC 6663/91464)
Row 583357459 (NC_000023.11:73077722::ACAC 497/91556)
Row 583357460 (NC_000023.11:73077722::ACACAC 43/91565)...

- Apr 27, 2021 (155)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 583357458 (NC_000023.11:73077722::AC 6663/91464)
Row 583357459 (NC_000023.11:73077722::ACAC 497/91556)
Row 583357460 (NC_000023.11:73077722::ACACAC 43/91565)...

- Apr 27, 2021 (155)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 583357458 (NC_000023.11:73077722::AC 6663/91464)
Row 583357459 (NC_000023.11:73077722::ACAC 497/91556)
Row 583357460 (NC_000023.11:73077722::ACACAC 43/91565)...

- Apr 27, 2021 (155)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 583357458 (NC_000023.11:73077722::AC 6663/91464)
Row 583357459 (NC_000023.11:73077722::ACAC 497/91556)
Row 583357460 (NC_000023.11:73077722::ACACAC 43/91565)...

- Apr 27, 2021 (155)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 583357458 (NC_000023.11:73077722::AC 6663/91464)
Row 583357459 (NC_000023.11:73077722::ACAC 497/91556)
Row 583357460 (NC_000023.11:73077722::ACACAC 43/91565)...

- Apr 27, 2021 (155)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 583357458 (NC_000023.11:73077722::AC 6663/91464)
Row 583357459 (NC_000023.11:73077722::ACAC 497/91556)
Row 583357460 (NC_000023.11:73077722::ACACAC 43/91565)...

- Apr 27, 2021 (155)
61 8.3KJPN

Submission ignored due to conflicting rows:
Row 92874823 (NC_000023.10:72297561::AC 2671/12841)
Row 92874824 (NC_000023.10:72297561:AC: 735/12841)
Row 92874825 (NC_000023.10:72297561:ACACAC: 64/12841)...

- Apr 27, 2021 (155)
62 8.3KJPN

Submission ignored due to conflicting rows:
Row 92874823 (NC_000023.10:72297561::AC 2671/12841)
Row 92874824 (NC_000023.10:72297561:AC: 735/12841)
Row 92874825 (NC_000023.10:72297561:ACACAC: 64/12841)...

- Apr 27, 2021 (155)
63 8.3KJPN

Submission ignored due to conflicting rows:
Row 92874823 (NC_000023.10:72297561::AC 2671/12841)
Row 92874824 (NC_000023.10:72297561:AC: 735/12841)
Row 92874825 (NC_000023.10:72297561:ACACAC: 64/12841)...

- Apr 27, 2021 (155)
64 8.3KJPN

Submission ignored due to conflicting rows:
Row 92874823 (NC_000023.10:72297561::AC 2671/12841)
Row 92874824 (NC_000023.10:72297561:AC: 735/12841)
Row 92874825 (NC_000023.10:72297561:ACACAC: 64/12841)...

- Apr 27, 2021 (155)
65 8.3KJPN

Submission ignored due to conflicting rows:
Row 92874823 (NC_000023.10:72297561::AC 2671/12841)
Row 92874824 (NC_000023.10:72297561:AC: 735/12841)
Row 92874825 (NC_000023.10:72297561:ACACAC: 64/12841)...

- Apr 27, 2021 (155)
66 14KJPN

Submission ignored due to conflicting rows:
Row 130701828 (NC_000023.11:73077722::AC 4672/22222)
Row 130701829 (NC_000023.11:73077722:AC: 1279/22222)
Row 130701830 (NC_000023.11:73077722:ACACAC: 91/22222)...

- Oct 17, 2022 (156)
67 14KJPN

Submission ignored due to conflicting rows:
Row 130701828 (NC_000023.11:73077722::AC 4672/22222)
Row 130701829 (NC_000023.11:73077722:AC: 1279/22222)
Row 130701830 (NC_000023.11:73077722:ACACAC: 91/22222)...

- Oct 17, 2022 (156)
68 14KJPN

Submission ignored due to conflicting rows:
Row 130701828 (NC_000023.11:73077722::AC 4672/22222)
Row 130701829 (NC_000023.11:73077722:AC: 1279/22222)
Row 130701830 (NC_000023.11:73077722:ACACAC: 91/22222)...

- Oct 17, 2022 (156)
69 14KJPN

Submission ignored due to conflicting rows:
Row 130701828 (NC_000023.11:73077722::AC 4672/22222)
Row 130701829 (NC_000023.11:73077722:AC: 1279/22222)
Row 130701830 (NC_000023.11:73077722:ACACAC: 91/22222)...

- Oct 17, 2022 (156)
70 14KJPN

Submission ignored due to conflicting rows:
Row 130701828 (NC_000023.11:73077722::AC 4672/22222)
Row 130701829 (NC_000023.11:73077722:AC: 1279/22222)
Row 130701830 (NC_000023.11:73077722:ACACAC: 91/22222)...

- Oct 17, 2022 (156)
71 TopMed NC_000023.11 - 73077723 Apr 27, 2021 (155)
72 UK 10K study - Twins - Oct 12, 2018 (152)
73 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 45695387 (NC_000023.10:72297561:ACAC: 389/3708)
Row 45695388 (NC_000023.10:72297563:AC: 2568/3708)

- Apr 27, 2020 (154)
74 A Vietnamese Genetic Variation Database

Submission ignored due to conflicting rows:
Row 10053491 (NC_000023.10:72297561::AC 10/47)
Row 10053492 (NC_000023.10:72297561:AC: 10/48)
Row 10053493 (NC_000023.10:72297561:ACACAC: 10/48)...

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

Submission ignored due to conflicting rows:
Row 10053491 (NC_000023.10:72297561::AC 10/47)
Row 10053492 (NC_000023.10:72297561:AC: 10/48)
Row 10053493 (NC_000023.10:72297561:ACACAC: 10/48)...

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

Submission ignored due to conflicting rows:
Row 10053491 (NC_000023.10:72297561::AC 10/47)
Row 10053492 (NC_000023.10:72297561:AC: 10/48)
Row 10053493 (NC_000023.10:72297561:ACACAC: 10/48)...

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

Submission ignored due to conflicting rows:
Row 10053491 (NC_000023.10:72297561::AC 10/47)
Row 10053492 (NC_000023.10:72297561:AC: 10/48)
Row 10053493 (NC_000023.10:72297561:ACACAC: 10/48)...

- Jul 13, 2019 (153)
78 ALFA NC_000023.11 - 73077723 Apr 27, 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
ss4373406813 NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACAC:

NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACAC

(self)
7796481549 NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACAC

NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACAC

(self)
7796481549 NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACAC

NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACAC

(self)
ss4373406812 NC_000023.11:73077722:ACACACAC: NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC

(self)
7796481549 NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC

NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC

(self)
ss1997232157, ss3020133912, ss5234905518 NC_000023.10:72297561:ACACAC: NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC

(self)
ss4373406811, ss5312865581, ss5504465260, ss5796864726 NC_000023.11:73077722:ACACAC: NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC

(self)
7796481549 NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC

NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC

(self)
45695387, ss1709755548, ss1709755670, ss1997232161 NC_000023.10:72297561:ACAC: NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC

(self)
ss4373406810, ss5312865582, ss5504465261, ss5796864729 NC_000023.11:73077722:ACAC: NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC

(self)
7796481549 NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC

NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC

(self)
82812192, ss666780589, ss1554841204, ss3836199035, ss5234905517, ss5981160752 NC_000023.10:72297561:AC: NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC

(self)
ss1710865505, ss1710865506, ss1997232159 NC_000023.10:72297563:AC: NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC

(self)
ss3841707149 NC_000023.10:72297565:AC: NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC

(self)
ss3065265279, ss3823070853, ss4373406809, ss5312865580, ss5504465258, ss5796864725 NC_000023.11:73077722:AC: NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC

(self)
7796481549 NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC

NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC

(self)
ss3847230597 NC_000023.11:73077726:AC: NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC

(self)
ss3651286441 NC_000023.11:73077743:CA: NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC

(self)
ss478844451 NC_000023.9:72214316::AC NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC

(self)
ss5234905516 NC_000023.10:72297561::AC NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC

(self)
ss3064370183, ss4373406805, ss5312865579, ss5504465259, ss5796864724 NC_000023.11:73077722::AC NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC

(self)
7796481549 NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC

NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC

(self)
ss5234905519 NC_000023.10:72297561::ACAC NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC

(self)
ss4373406806, ss5312865583, ss5504465262, ss5796864727 NC_000023.11:73077722::ACAC NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC

(self)
7796481549 NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC

NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC

(self)
ss5234905520 NC_000023.10:72297561::ACACAC NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC

(self)
ss4373406807 NC_000023.11:73077722::ACACAC NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC

(self)
7796481549 NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC

NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC

(self)
690039429, ss4373406808, ss5126433072 NC_000023.11:73077722::ACACACAC NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC

(self)
7796481549 NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC

NC_000023.11:73077722:ACACACACACAC…

NC_000023.11:73077722:ACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC

(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 rs377158860

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