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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.

rs4024511

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chrX:13309958-13309985 (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(TG)6 / del(TG)5 / del(TG)4 / d…

del(TG)6 / del(TG)5 / del(TG)4 / del(TG)3 / delTGTG / delTG / dupTG / dupTGTG / dup(TG)3 / dup(TG)4

Variation Type
Indel Insertion and Deletion
Frequency
delTG=0.12223 (1564/12796, ALFA)
delTG=0.4959 (1872/3775, 1000G)
delTG=0.38 (15/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GS1-600G8.3 : 2KB Upstream 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 12796 TGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.87434 TGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.12223, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00266, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00078, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000 0.836764 0.081697 0.08154 32
European Sub 11474 TGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.86482 TGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.13134, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00296, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00087, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00000 0.823457 0.086781 0.089762 32
African Sub 788 TGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.956 TGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.044, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000 0.949239 0.038071 0.01269 32
African Others Sub 22 TGTGTGTGTGTGTGTGTGTGTGTGTGTG=1.00 TGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00 1.0 0.0 0.0 N/A
African American Sub 766 TGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.954 TGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.046, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000 0.947781 0.039164 0.013055 32
Asian Sub 6 TGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.7 TGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.3, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0 0.666667 0.333333 0.0 2
East Asian Sub 4 TGTGTGTGTGTGTGTGTGTGTGTGTGTG=1.0 TGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 TGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0 TGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTG=1.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.0 0.0 1.0 0.0 N/A
Latin American 1 Sub 58 TGTGTGTGTGTGTGTGTGTGTGTGTGTG=1.00 TGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 174 TGTGTGTGTGTGTGTGTGTGTGTGTGTG=1.000 TGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000 1.0 0.0 0.0 N/A
South Asian Sub 46 TGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.96 TGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.04, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.00 0.956522 0.043478 0.0 13
Other Sub 250 TGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.928 TGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTG=0.072, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG=0.000 0.92 0.064 0.016 32


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 12796 (TG)14=0.87434 del(TG)6=0.00000, del(TG)5=0.00000, del(TG)4=0.00000, del(TG)3=0.00000, delTGTG=0.00000, delTG=0.12223, dupTG=0.00266, dupTGTG=0.00078, dup(TG)3=0.00000, dup(TG)4=0.00000
Allele Frequency Aggregator European Sub 11474 (TG)14=0.86482 del(TG)6=0.00000, del(TG)5=0.00000, del(TG)4=0.00000, del(TG)3=0.00000, delTGTG=0.00000, delTG=0.13134, dupTG=0.00296, dupTGTG=0.00087, dup(TG)3=0.00000, dup(TG)4=0.00000
Allele Frequency Aggregator African Sub 788 (TG)14=0.956 del(TG)6=0.000, del(TG)5=0.000, del(TG)4=0.000, del(TG)3=0.000, delTGTG=0.000, delTG=0.044, dupTG=0.000, dupTGTG=0.000, dup(TG)3=0.000, dup(TG)4=0.000
Allele Frequency Aggregator Other Sub 250 (TG)14=0.928 del(TG)6=0.000, del(TG)5=0.000, del(TG)4=0.000, del(TG)3=0.000, delTGTG=0.000, delTG=0.072, dupTG=0.000, dupTGTG=0.000, dup(TG)3=0.000, dup(TG)4=0.000
Allele Frequency Aggregator Latin American 2 Sub 174 (TG)14=1.000 del(TG)6=0.000, del(TG)5=0.000, del(TG)4=0.000, del(TG)3=0.000, delTGTG=0.000, delTG=0.000, dupTG=0.000, dupTGTG=0.000, dup(TG)3=0.000, dup(TG)4=0.000
Allele Frequency Aggregator Latin American 1 Sub 58 (TG)14=1.00 del(TG)6=0.00, del(TG)5=0.00, del(TG)4=0.00, del(TG)3=0.00, delTGTG=0.00, delTG=0.00, dupTG=0.00, dupTGTG=0.00, dup(TG)3=0.00, dup(TG)4=0.00
Allele Frequency Aggregator South Asian Sub 46 (TG)14=0.96 del(TG)6=0.00, del(TG)5=0.00, del(TG)4=0.00, del(TG)3=0.00, delTGTG=0.00, delTG=0.04, dupTG=0.00, dupTGTG=0.00, dup(TG)3=0.00, dup(TG)4=0.00
Allele Frequency Aggregator Asian Sub 6 (TG)14=0.7 del(TG)6=0.0, del(TG)5=0.0, del(TG)4=0.0, del(TG)3=0.0, delTGTG=0.0, delTG=0.3, dupTG=0.0, dupTGTG=0.0, dup(TG)3=0.0, dup(TG)4=0.0
1000Genomes Global Study-wide 3775 (TG)14=0.5041 delTG=0.4959
1000Genomes African Sub 1003 (TG)14=0.6251 delTG=0.3749
1000Genomes Europe Sub 766 (TG)14=0.726 delTG=0.274
1000Genomes East Asian Sub 764 (TG)14=0.170 delTG=0.830
1000Genomes South Asian Sub 718 (TG)14=0.499 delTG=0.501
1000Genomes American Sub 524 (TG)14=0.443 delTG=0.557
The Danish reference pan genome Danish Study-wide 40 (TG)14=0.62 delTG=0.38
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.13309958TG[8]
GRCh38.p14 chr X NC_000023.11:g.13309958TG[9]
GRCh38.p14 chr X NC_000023.11:g.13309958TG[10]
GRCh38.p14 chr X NC_000023.11:g.13309958TG[11]
GRCh38.p14 chr X NC_000023.11:g.13309958TG[12]
GRCh38.p14 chr X NC_000023.11:g.13309958TG[13]
GRCh38.p14 chr X NC_000023.11:g.13309958TG[15]
GRCh38.p14 chr X NC_000023.11:g.13309958TG[16]
GRCh38.p14 chr X NC_000023.11:g.13309958TG[17]
GRCh38.p14 chr X NC_000023.11:g.13309958TG[18]
GRCh37.p13 chr X NC_000023.10:g.13328077TG[8]
GRCh37.p13 chr X NC_000023.10:g.13328077TG[9]
GRCh37.p13 chr X NC_000023.10:g.13328077TG[10]
GRCh37.p13 chr X NC_000023.10:g.13328077TG[11]
GRCh37.p13 chr X NC_000023.10:g.13328077TG[12]
GRCh37.p13 chr X NC_000023.10:g.13328077TG[13]
GRCh37.p13 chr X NC_000023.10:g.13328077TG[15]
GRCh37.p13 chr X NC_000023.10:g.13328077TG[16]
GRCh37.p13 chr X NC_000023.10:g.13328077TG[17]
GRCh37.p13 chr X NC_000023.10:g.13328077TG[18]
Gene: GS1-600G8.3, unknown transcript (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
GS1-600G8.3 transcript NR_046087.1:n. N/A Upstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
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 (TG)14= del(TG)6 del(TG)5 del(TG)4 del(TG)3 delTGTG delTG dupTG dupTGTG dup(TG)3 dup(TG)4
GRCh38.p14 chr X NC_000023.11:g.13309958_13309985= NC_000023.11:g.13309958TG[8] NC_000023.11:g.13309958TG[9] NC_000023.11:g.13309958TG[10] NC_000023.11:g.13309958TG[11] NC_000023.11:g.13309958TG[12] NC_000023.11:g.13309958TG[13] NC_000023.11:g.13309958TG[15] NC_000023.11:g.13309958TG[16] NC_000023.11:g.13309958TG[17] NC_000023.11:g.13309958TG[18]
GRCh37.p13 chr X NC_000023.10:g.13328077_13328104= NC_000023.10:g.13328077TG[8] NC_000023.10:g.13328077TG[9] NC_000023.10:g.13328077TG[10] NC_000023.10:g.13328077TG[11] NC_000023.10:g.13328077TG[12] NC_000023.10:g.13328077TG[13] NC_000023.10:g.13328077TG[15] NC_000023.10:g.13328077TG[16] NC_000023.10:g.13328077TG[17] NC_000023.10:g.13328077TG[18]
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, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss5369589 Oct 10, 2002 (108)
2 PJP ss295446915 May 09, 2011 (137)
3 PJP ss295446916 Aug 21, 2014 (142)
4 GMI ss478832343 May 04, 2012 (137)
5 GMI ss478832344 May 04, 2012 (137)
6 SSMP ss664546622 Apr 01, 2015 (144)
7 BILGI_BIOE ss666775101 Apr 25, 2013 (138)
8 DDI ss1536936167 Apr 01, 2015 (144)
9 1000GENOMES ss1553574957 Apr 01, 2015 (144)
10 EVA_GENOME_DK ss1577526033 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1709658164 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1709658224 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1710853766 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1710853769 Apr 01, 2015 (144)
15 SWEGEN ss3019654688 Nov 08, 2017 (151)
16 MCHAISSO ss3064361694 Nov 08, 2017 (151)
17 MCHAISSO ss3065255033 Nov 08, 2017 (151)
18 MCHAISSO ss3066280578 Nov 08, 2017 (151)
19 URBANLAB ss3651250784 Oct 12, 2018 (152)
20 KHV_HUMAN_GENOMES ss3822784421 Jul 13, 2019 (153)
21 KHV_HUMAN_GENOMES ss3822784422 Jul 13, 2019 (153)
22 KHV_HUMAN_GENOMES ss3822784423 Jul 13, 2019 (153)
23 EVA ss3836098309 Apr 27, 2020 (154)
24 EVA ss3847183364 Apr 27, 2020 (154)
25 GNOMAD ss4368194213 Apr 27, 2021 (155)
26 GNOMAD ss4368194214 Apr 27, 2021 (155)
27 GNOMAD ss4368194215 Apr 27, 2021 (155)
28 GNOMAD ss4368194216 Apr 27, 2021 (155)
29 GNOMAD ss4368194217 Apr 27, 2021 (155)
30 GNOMAD ss4368194218 Apr 27, 2021 (155)
31 GNOMAD ss4368194219 Apr 27, 2021 (155)
32 GNOMAD ss4368194220 Apr 27, 2021 (155)
33 GNOMAD ss4368194221 Apr 27, 2021 (155)
34 TOPMED ss5115967490 Apr 27, 2021 (155)
35 TOPMED ss5115967492 Apr 27, 2021 (155)
36 TOMMO_GENOMICS ss5233605210 Apr 27, 2021 (155)
37 TOMMO_GENOMICS ss5233605211 Apr 27, 2021 (155)
38 TOMMO_GENOMICS ss5233605212 Apr 27, 2021 (155)
39 1000G_HIGH_COVERAGE ss5311852451 Oct 16, 2022 (156)
40 1000G_HIGH_COVERAGE ss5311852452 Oct 16, 2022 (156)
41 1000G_HIGH_COVERAGE ss5311852453 Oct 16, 2022 (156)
42 1000G_HIGH_COVERAGE ss5311852454 Oct 16, 2022 (156)
43 HUGCELL_USP ss5503596358 Oct 16, 2022 (156)
44 HUGCELL_USP ss5503596359 Oct 16, 2022 (156)
45 HUGCELL_USP ss5503596360 Oct 16, 2022 (156)
46 TOMMO_GENOMICS ss5795055347 Oct 16, 2022 (156)
47 TOMMO_GENOMICS ss5795055348 Oct 16, 2022 (156)
48 TOMMO_GENOMICS ss5795055349 Oct 16, 2022 (156)
49 TOMMO_GENOMICS ss5795055350 Oct 16, 2022 (156)
50 1000Genomes NC_000023.10 - 13328077 Oct 12, 2018 (152)
51 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 45054079 (NC_000023.10:13328076:TG: 985/2889)
Row 45054080 (NC_000023.10:13328076::TG 33/2889)

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

Submission ignored due to conflicting rows:
Row 45054079 (NC_000023.10:13328076:TG: 985/2889)
Row 45054080 (NC_000023.10:13328076::TG 33/2889)

- Oct 12, 2018 (152)
53 The Danish reference pan genome NC_000023.10 - 13328077 Apr 27, 2020 (154)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 575570668 (NC_000023.11:13309957::TG 7173/94973)
Row 575570669 (NC_000023.11:13309957::TGTG 479/95054)
Row 575570670 (NC_000023.11:13309957::TGTGTG 81/95069)...

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

Submission ignored due to conflicting rows:
Row 575570668 (NC_000023.11:13309957::TG 7173/94973)
Row 575570669 (NC_000023.11:13309957::TGTG 479/95054)
Row 575570670 (NC_000023.11:13309957::TGTGTG 81/95069)...

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

Submission ignored due to conflicting rows:
Row 575570668 (NC_000023.11:13309957::TG 7173/94973)
Row 575570669 (NC_000023.11:13309957::TGTG 479/95054)
Row 575570670 (NC_000023.11:13309957::TGTGTG 81/95069)...

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

Submission ignored due to conflicting rows:
Row 575570668 (NC_000023.11:13309957::TG 7173/94973)
Row 575570669 (NC_000023.11:13309957::TGTG 479/95054)
Row 575570670 (NC_000023.11:13309957::TGTGTG 81/95069)...

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

Submission ignored due to conflicting rows:
Row 575570668 (NC_000023.11:13309957::TG 7173/94973)
Row 575570669 (NC_000023.11:13309957::TGTG 479/95054)
Row 575570670 (NC_000023.11:13309957::TGTGTG 81/95069)...

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

Submission ignored due to conflicting rows:
Row 575570668 (NC_000023.11:13309957::TG 7173/94973)
Row 575570669 (NC_000023.11:13309957::TGTG 479/95054)
Row 575570670 (NC_000023.11:13309957::TGTGTG 81/95069)...

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

Submission ignored due to conflicting rows:
Row 575570668 (NC_000023.11:13309957::TG 7173/94973)
Row 575570669 (NC_000023.11:13309957::TGTG 479/95054)
Row 575570670 (NC_000023.11:13309957::TGTGTG 81/95069)...

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

Submission ignored due to conflicting rows:
Row 575570668 (NC_000023.11:13309957::TG 7173/94973)
Row 575570669 (NC_000023.11:13309957::TGTG 479/95054)
Row 575570670 (NC_000023.11:13309957::TGTGTG 81/95069)...

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

Submission ignored due to conflicting rows:
Row 575570668 (NC_000023.11:13309957::TG 7173/94973)
Row 575570669 (NC_000023.11:13309957::TGTG 479/95054)
Row 575570670 (NC_000023.11:13309957::TGTGTG 81/95069)...

- Apr 27, 2021 (155)
63 8.3KJPN

Submission ignored due to conflicting rows:
Row 91574517 (NC_000023.10:13328076:TG: 11367/12841)
Row 91574518 (NC_000023.10:13328076:TGTG: 43/12841)
Row 91574519 (NC_000023.10:13328076::TG 300/12841)

- Apr 27, 2021 (155)
64 8.3KJPN

Submission ignored due to conflicting rows:
Row 91574517 (NC_000023.10:13328076:TG: 11367/12841)
Row 91574518 (NC_000023.10:13328076:TGTG: 43/12841)
Row 91574519 (NC_000023.10:13328076::TG 300/12841)

- Apr 27, 2021 (155)
65 8.3KJPN

Submission ignored due to conflicting rows:
Row 91574517 (NC_000023.10:13328076:TG: 11367/12841)
Row 91574518 (NC_000023.10:13328076:TGTG: 43/12841)
Row 91574519 (NC_000023.10:13328076::TG 300/12841)

- Apr 27, 2021 (155)
66 14KJPN

Submission ignored due to conflicting rows:
Row 128892451 (NC_000023.11:13309957:TG: 19666/22214)
Row 128892452 (NC_000023.11:13309957::TG 516/22214)
Row 128892453 (NC_000023.11:13309957:TGTG: 41/22214)...

- Oct 16, 2022 (156)
67 14KJPN

Submission ignored due to conflicting rows:
Row 128892451 (NC_000023.11:13309957:TG: 19666/22214)
Row 128892452 (NC_000023.11:13309957::TG 516/22214)
Row 128892453 (NC_000023.11:13309957:TGTG: 41/22214)...

- Oct 16, 2022 (156)
68 14KJPN

Submission ignored due to conflicting rows:
Row 128892451 (NC_000023.11:13309957:TG: 19666/22214)
Row 128892452 (NC_000023.11:13309957::TG 516/22214)
Row 128892453 (NC_000023.11:13309957:TGTG: 41/22214)...

- Oct 16, 2022 (156)
69 14KJPN

Submission ignored due to conflicting rows:
Row 128892451 (NC_000023.11:13309957:TG: 19666/22214)
Row 128892452 (NC_000023.11:13309957::TG 516/22214)
Row 128892453 (NC_000023.11:13309957:TGTG: 41/22214)...

- Oct 16, 2022 (156)
70 TopMed

Submission ignored due to conflicting rows:
Row 679573847 (NC_000023.11:13309957::TGTGTG 205/264690)
Row 679573849 (NC_000023.11:13309957:TG: 99953/264690)

- Apr 27, 2021 (155)
71 TopMed

Submission ignored due to conflicting rows:
Row 679573847 (NC_000023.11:13309957::TGTGTG 205/264690)
Row 679573849 (NC_000023.11:13309957:TG: 99953/264690)

- Apr 27, 2021 (155)
72 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 45054079 (NC_000023.10:13328076:TG: 1344/3708)
Row 45054080 (NC_000023.10:13328076::TG 45/3708)

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

Submission ignored due to conflicting rows:
Row 45054079 (NC_000023.10:13328076:TG: 1344/3708)
Row 45054080 (NC_000023.10:13328076::TG 45/3708)

- Oct 12, 2018 (152)
74 ALFA NC_000023.11 - 13309958 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).

Associated ID History Updated (Build)
rs71950447 May 11, 2012 (137)
rs147177958 May 11, 2012 (137)
rs373971988 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4368194221 NC_000023.11:13309957:TGTGTGTGTGTG: NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG

(self)
8907413576 NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG

NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG

(self)
ss4368194220 NC_000023.11:13309957:TGTGTGTGTG: NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG

(self)
8907413576 NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG

NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG

(self)
ss4368194219 NC_000023.11:13309957:TGTGTGTG: NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG

(self)
8907413576 NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG

NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG

(self)
ss4368194218, ss5795055350 NC_000023.11:13309957:TGTGTG: NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG

(self)
8907413576 NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG

NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG

(self)
ss5233605211 NC_000023.10:13328076:TGTG: NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG

(self)
ss3822784422, ss4368194217, ss5311852452, ss5795055349 NC_000023.11:13309957:TGTG: NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG

(self)
8907413576 NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG

NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG

(self)
ss295446915, ss478832343 NC_000023.9:13237997:TG: NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
ss295446916 NC_000023.9:13238023:TG: NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
81558481, 1314036, ss664546622, ss666775101, ss1536936167, ss1553574957, ss1577526033, ss1709658164, ss1709658224, ss3019654688, ss3836098309, ss5233605210 NC_000023.10:13328076:TG: NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
ss3064361694, ss3065255033, ss3066280578, ss3822784421, ss3847183364, ss4368194216, ss5115967492, ss5311852451, ss5503596358, ss5795055347 NC_000023.11:13309957:TG: NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
8907413576 NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG

NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
ss3822784423 NC_000023.11:13309959:TG: NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
ss3651250784 NC_000023.11:13309980:GT: NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
ss5369589 NT_167197.1:11209863:GT: NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
ss478832344 NC_000023.9:13238025::TG NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
ss5233605212 NC_000023.10:13328076::TG NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
ss1710853766, ss1710853769 NC_000023.10:13328078::TG NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
ss4368194213, ss5311852453, ss5503596359, ss5795055348 NC_000023.11:13309957::TG NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
8907413576 NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG

NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
ss4368194214, ss5311852454, ss5503596360 NC_000023.11:13309957::TGTG NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
8907413576 NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG

NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
ss4368194215, ss5115967490 NC_000023.11:13309957::TGTGTG NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
8907413576 NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG

NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG

(self)
8907413576 NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG

NC_000023.11:13309957:TGTGTGTGTGTG…

NC_000023.11:13309957:TGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG

(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 rs4024511

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