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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.

rs10305752

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:150810764-150810765 (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
dupG
Variation Type
Indel Insertion and Deletion
Frequency
dupG=0.019846 (5253/264690, TOPMED)
dupG=0.020931 (2935/140222, GnomAD)
dupG=0.00995 (783/78700, PAGE_STUDY) (+ 9 more)
dupG=0.02954 (547/18520, ALFA)
dupG=0.0091 (58/6404, 1000G_30x)
dupG=0.0086 (43/5008, 1000G)
dupG=0.0513 (230/4480, Estonian)
dupG=0.0228 (88/3854, ALSPAC)
dupG=0.0210 (78/3708, TWINSUK)
dupG=0.0005 (1/1832, Korea1K)
dupG=0.026 (26/998, GoNL)
dupG=0.020 (12/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ARNT : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 18520 GG=0.97046 GGG=0.02954
European Sub 14152 GG=0.96432 GGG=0.03568
African Sub 2898 GG=0.9941 GGG=0.0059
African Others Sub 114 GG=1.000 GGG=0.000
African American Sub 2784 GG=0.9939 GGG=0.0061
Asian Sub 112 GG=1.000 GGG=0.000
East Asian Sub 86 GG=1.00 GGG=0.00
Other Asian Sub 26 GG=1.00 GGG=0.00
Latin American 1 Sub 146 GG=0.973 GGG=0.027
Latin American 2 Sub 610 GG=0.987 GGG=0.013
South Asian Sub 98 GG=0.98 GGG=0.02
Other Sub 504 GG=0.978 GGG=0.022


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

dupG=0.019846
gnomAD - Genomes Global Study-wide 140222 -

No frequency provided

dupG=0.020931
gnomAD - Genomes European Sub 75942 -

No frequency provided

dupG=0.02986
gnomAD - Genomes African Sub 42038 -

No frequency provided

dupG=0.00440
gnomAD - Genomes American Sub 13640 -

No frequency provided

dupG=0.01840
gnomAD - Genomes Ashkenazi Jewish Sub 3322 -

No frequency provided

dupG=0.0590
gnomAD - Genomes East Asian Sub 3130 -

No frequency provided

dupG=0.0003
gnomAD - Genomes Other Sub 2150 -

No frequency provided

dupG=0.0158
The PAGE Study Global Study-wide 78700 -

No frequency provided

dupG=0.00995
The PAGE Study AfricanAmerican Sub 32516 -

No frequency provided

dupG=0.00455
The PAGE Study Mexican Sub 10810 -

No frequency provided

dupG=0.01600
The PAGE Study Asian Sub 8318 -

No frequency provided

dupG=0.0002
The PAGE Study PuertoRican Sub 7916 -

No frequency provided

dupG=0.0183
The PAGE Study NativeHawaiian Sub 4534 -

No frequency provided

dupG=0.0079
The PAGE Study Cuban Sub 4230 -

No frequency provided

dupG=0.0293
The PAGE Study Dominican Sub 3828 -

No frequency provided

dupG=0.0146
The PAGE Study CentralAmerican Sub 2450 -

No frequency provided

dupG=0.0118
The PAGE Study SouthAmerican Sub 1982 -

No frequency provided

dupG=0.0177
The PAGE Study NativeAmerican Sub 1260 -

No frequency provided

dupG=0.0214
The PAGE Study SouthAsian Sub 856 -

No frequency provided

dupG=0.009
Allele Frequency Aggregator Total Global 18520 GG=0.97046 dupG=0.02954
Allele Frequency Aggregator European Sub 14152 GG=0.96432 dupG=0.03568
Allele Frequency Aggregator African Sub 2898 GG=0.9941 dupG=0.0059
Allele Frequency Aggregator Latin American 2 Sub 610 GG=0.987 dupG=0.013
Allele Frequency Aggregator Other Sub 504 GG=0.978 dupG=0.022
Allele Frequency Aggregator Latin American 1 Sub 146 GG=0.973 dupG=0.027
Allele Frequency Aggregator Asian Sub 112 GG=1.000 dupG=0.000
Allele Frequency Aggregator South Asian Sub 98 GG=0.98 dupG=0.02
1000Genomes_30x Global Study-wide 6404 -

No frequency provided

dupG=0.0091
1000Genomes_30x African Sub 1786 -

No frequency provided

dupG=0.0000
1000Genomes_30x Europe Sub 1266 -

No frequency provided

dupG=0.0308
1000Genomes_30x South Asian Sub 1202 -

No frequency provided

dupG=0.0042
1000Genomes_30x East Asian Sub 1170 -

No frequency provided

dupG=0.0000
1000Genomes_30x American Sub 980 -

No frequency provided

dupG=0.014
1000Genomes Global Study-wide 5008 -

No frequency provided

dupG=0.0086
1000Genomes African Sub 1322 -

No frequency provided

dupG=0.0000
1000Genomes East Asian Sub 1008 -

No frequency provided

dupG=0.0000
1000Genomes Europe Sub 1006 -

No frequency provided

dupG=0.0258
1000Genomes South Asian Sub 978 -

No frequency provided

dupG=0.005
1000Genomes American Sub 694 -

No frequency provided

dupG=0.017
Genetic variation in the Estonian population Estonian Study-wide 4480 -

No frequency provided

dupG=0.0513
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 -

No frequency provided

dupG=0.0228
UK 10K study - Twins TWIN COHORT Study-wide 3708 -

No frequency provided

dupG=0.0210
Korean Genome Project KOREAN Study-wide 1832 -

No frequency provided

dupG=0.0005
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 -

No frequency provided

dupG=0.026
Northern Sweden ACPOP Study-wide 600 -

No frequency provided

dupG=0.020
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 1 NC_000001.11:g.150810765dup
GRCh37.p13 chr 1 NC_000001.10:g.150783241dup
ARNT RefSeqGene NG_028248.1:g.71005dup
CTSK RefSeqGene NG_011848.1:g.2573dup
Gene: ARNT, aryl hydrocarbon receptor nuclear translocator (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ARNT transcript variant 1 NM_001668.4:c.*1256_*1257= N/A 3 Prime UTR Variant
ARNT transcript variant 7 NM_001350224.2:c.*1256_*1…

NM_001350224.2:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant 9 NM_001350226.2:c.*1256_*1…

NM_001350226.2:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant 4 NM_001197325.2:c.*1256_*1…

NM_001197325.2:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant 5 NM_001286035.2:c.*1256_*1…

NM_001286035.2:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant 6 NM_001286036.2:c.*1256_*1…

NM_001286036.2:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant 8 NM_001350225.2:c.*1256_*1…

NM_001350225.2:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant 3 NM_178427.3:c.*1256_*1257= N/A 3 Prime UTR Variant
ARNT transcript variant X1 XM_017001288.3:c.*1256_*1…

XM_017001288.3:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X2 XM_017001289.2:c.*1256_*1…

XM_017001289.2:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X3 XM_047420692.1:c.*1256_*1…

XM_047420692.1:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X4 XM_017001290.3:c.*1256_*1…

XM_017001290.3:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X5 XM_017001291.2:c.*1256_*1…

XM_017001291.2:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X6 XM_047420694.1:c.*1256_*1…

XM_047420694.1:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X7 XM_047420697.1:c.*1256_*1…

XM_047420697.1:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X8 XM_017001292.2:c.*1256_*1…

XM_017001292.2:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X9 XM_047420700.1:c.*1256_*1…

XM_047420700.1:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X10 XM_047420701.1:c.*1256_*1…

XM_047420701.1:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X11 XM_017001293.2:c.*1256_*1…

XM_017001293.2:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X12 XM_005245151.3:c.*1256_*1…

XM_005245151.3:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X13 XM_011509543.4:c.*1256_*1…

XM_011509543.4:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X14 XM_047420709.1:c.*1256_*1…

XM_047420709.1:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X15 XM_005245153.2:c.*1256_*1…

XM_005245153.2:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X16 XM_047420711.1:c.*1256_*1…

XM_047420711.1:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X17 XM_047420712.1:c.*1256_*1…

XM_047420712.1:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X18 XM_047420713.1:c.*1256_*1…

XM_047420713.1:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X19 XM_047420715.1:c.*1256_*1…

XM_047420715.1:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X20 XM_047420716.1:c.*1256_*1…

XM_047420716.1:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X21 XM_011509546.3:c.*1256_*1…

XM_011509546.3:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X22 XM_005245157.2:c.*1256_*1…

XM_005245157.2:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X23 XM_017001294.2:c.*1256_*1…

XM_017001294.2:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X24 XM_017001295.2:c.*1256_*1…

XM_017001295.2:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X25 XM_047420719.1:c.*1256_*1…

XM_047420719.1:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X26 XM_017001296.2:c.*1256_*1…

XM_017001296.2:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X27 XM_047420727.1:c.*1256_*1…

XM_047420727.1:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X28 XM_047420734.1:c.*1256_*1…

XM_047420734.1:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X29 XM_047420740.1:c.*1256_*1…

XM_047420740.1:c.*1256_*1257=

N/A 3 Prime UTR Variant
ARNT transcript variant X30 XM_047420743.1:c.*1256_*1…

XM_047420743.1:c.*1256_*1257=

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 GG= dupG
GRCh38.p14 chr 1 NC_000001.11:g.150810764_150810765= NC_000001.11:g.150810765dup
GRCh37.p13 chr 1 NC_000001.10:g.150783240_150783241= NC_000001.10:g.150783241dup
ARNT RefSeqGene NG_028248.1:g.71004_71005= NG_028248.1:g.71005dup
ARNT transcript variant 1 NM_001668.4:c.*1256_*1257= NM_001668.4:c.*1257dup
ARNT transcript variant 1 NM_001668.3:c.*1256_*1257= NM_001668.3:c.*1257dup
ARNT transcript variant 3 NM_178427.3:c.*1256_*1257= NM_178427.3:c.*1257dup
ARNT transcript variant 3 NM_178427.2:c.*1256_*1257= NM_178427.2:c.*1257dup
ARNT transcript variant 5 NM_001286035.2:c.*1256_*1257= NM_001286035.2:c.*1257dup
ARNT transcript variant 5 NM_001286035.1:c.*1256_*1257= NM_001286035.1:c.*1257dup
ARNT transcript variant 7 NM_001350224.2:c.*1256_*1257= NM_001350224.2:c.*1257dup
ARNT transcript variant 7 NM_001350224.1:c.*1256_*1257= NM_001350224.1:c.*1257dup
ARNT transcript variant 8 NM_001350225.2:c.*1256_*1257= NM_001350225.2:c.*1257dup
ARNT transcript variant 8 NM_001350225.1:c.*1256_*1257= NM_001350225.1:c.*1257dup
ARNT transcript variant 9 NM_001350226.2:c.*1256_*1257= NM_001350226.2:c.*1257dup
ARNT transcript variant 9 NM_001350226.1:c.*1256_*1257= NM_001350226.1:c.*1257dup
ARNT transcript variant 6 NM_001286036.2:c.*1256_*1257= NM_001286036.2:c.*1257dup
ARNT transcript variant 6 NM_001286036.1:c.*1256_*1257= NM_001286036.1:c.*1257dup
ARNT transcript variant 4 NM_001197325.2:c.*1256_*1257= NM_001197325.2:c.*1257dup
ARNT transcript variant 4 NM_001197325.1:c.*1256_*1257= NM_001197325.1:c.*1257dup
CTSK RefSeqGene NG_011848.1:g.2572_2573= NG_011848.1:g.2573dup
ARNT transcript variant X13 XM_011509543.4:c.*1256_*1257= XM_011509543.4:c.*1257dup
ARNT transcript variant X8 XM_011509543.3:c.*1256_*1257= XM_011509543.3:c.*1257dup
ARNT transcript variant X9 XM_011509543.2:c.*1256_*1257= XM_011509543.2:c.*1257dup
ARNT transcript variant X3 XM_011509543.1:c.*1256_*1257= XM_011509543.1:c.*1257dup
ARNT transcript variant X1 XM_017001288.3:c.*1256_*1257= XM_017001288.3:c.*1257dup
ARNT transcript variant X1 XM_017001288.2:c.*1256_*1257= XM_017001288.2:c.*1257dup
ARNT transcript variant X1 XM_017001288.1:c.*1256_*1257= XM_017001288.1:c.*1257dup
ARNT transcript variant X12 XM_005245151.3:c.*1256_*1257= XM_005245151.3:c.*1257dup
ARNT transcript variant X7 XM_005245151.2:c.*1256_*1257= XM_005245151.2:c.*1257dup
ARNT transcript variant X8 XM_005245151.1:c.*1256_*1257= XM_005245151.1:c.*1257dup
ARNT transcript variant X4 XM_017001290.3:c.*1256_*1257= XM_017001290.3:c.*1257dup
ARNT transcript variant X3 XM_017001290.2:c.*1256_*1257= XM_017001290.2:c.*1257dup
ARNT transcript variant X3 XM_017001290.1:c.*1256_*1257= XM_017001290.1:c.*1257dup
ARNT transcript variant X21 XM_011509546.3:c.*1256_*1257= XM_011509546.3:c.*1257dup
ARNT transcript variant X11 XM_011509546.2:c.*1256_*1257= XM_011509546.2:c.*1257dup
ARNT transcript variant X14 XM_011509546.1:c.*1256_*1257= XM_011509546.1:c.*1257dup
ARNT transcript variant X2 XM_017001289.2:c.*1256_*1257= XM_017001289.2:c.*1257dup
ARNT transcript variant X2 XM_017001289.1:c.*1256_*1257= XM_017001289.1:c.*1257dup
ARNT transcript variant X5 XM_017001291.2:c.*1256_*1257= XM_017001291.2:c.*1257dup
ARNT transcript variant X4 XM_017001291.1:c.*1256_*1257= XM_017001291.1:c.*1257dup
ARNT transcript variant X15 XM_005245153.2:c.*1256_*1257= XM_005245153.2:c.*1257dup
ARNT transcript variant X9 XM_005245153.1:c.*1256_*1257= XM_005245153.1:c.*1257dup
ARNT transcript variant X8 XM_017001292.2:c.*1256_*1257= XM_017001292.2:c.*1257dup
ARNT transcript variant X5 XM_017001292.1:c.*1256_*1257= XM_017001292.1:c.*1257dup
ARNT transcript variant X22 XM_005245157.2:c.*1256_*1257= XM_005245157.2:c.*1257dup
ARNT transcript variant X12 XM_005245157.1:c.*1256_*1257= XM_005245157.1:c.*1257dup
ARNT transcript variant X23 XM_017001294.2:c.*1256_*1257= XM_017001294.2:c.*1257dup
ARNT transcript variant X13 XM_017001294.1:c.*1256_*1257= XM_017001294.1:c.*1257dup
ARNT transcript variant X11 XM_017001293.2:c.*1256_*1257= XM_017001293.2:c.*1257dup
ARNT transcript variant X6 XM_017001293.1:c.*1256_*1257= XM_017001293.1:c.*1257dup
ARNT transcript variant X24 XM_017001295.2:c.*1256_*1257= XM_017001295.2:c.*1257dup
ARNT transcript variant X14 XM_017001295.1:c.*1256_*1257= XM_017001295.1:c.*1257dup
ARNT transcript variant X26 XM_017001296.2:c.*1256_*1257= XM_017001296.2:c.*1257dup
ARNT transcript variant X15 XM_017001296.1:c.*1256_*1257= XM_017001296.1:c.*1257dup
ARNT transcript variant X14 XM_047420709.1:c.*1256_*1257= XM_047420709.1:c.*1257dup
ARNT transcript variant X17 XM_047420712.1:c.*1256_*1257= XM_047420712.1:c.*1257dup
ARNT transcript variant X30 XM_047420743.1:c.*1256_*1257= XM_047420743.1:c.*1257dup
ARNT transcript variant X18 XM_047420713.1:c.*1256_*1257= XM_047420713.1:c.*1257dup
ARNT transcript variant X3 XM_047420692.1:c.*1256_*1257= XM_047420692.1:c.*1257dup
ARNT transcript variant X16 XM_047420711.1:c.*1256_*1257= XM_047420711.1:c.*1257dup
ARNT transcript variant X6 XM_047420694.1:c.*1256_*1257= XM_047420694.1:c.*1257dup
ARNT transcript variant X7 XM_047420697.1:c.*1256_*1257= XM_047420697.1:c.*1257dup
ARNT transcript variant X19 XM_047420715.1:c.*1256_*1257= XM_047420715.1:c.*1257dup
ARNT transcript variant X20 XM_047420716.1:c.*1256_*1257= XM_047420716.1:c.*1257dup
ARNT transcript variant X9 XM_047420700.1:c.*1256_*1257= XM_047420700.1:c.*1257dup
ARNT transcript variant X10 XM_047420701.1:c.*1256_*1257= XM_047420701.1:c.*1257dup
ARNT transcript variant X25 XM_047420719.1:c.*1256_*1257= XM_047420719.1:c.*1257dup
ARNT transcript variant X27 XM_047420727.1:c.*1256_*1257= XM_047420727.1:c.*1257dup
ARNT transcript variant X28 XM_047420734.1:c.*1256_*1257= XM_047420734.1:c.*1257dup
ARNT transcript variant X29 XM_047420740.1:c.*1256_*1257= XM_047420740.1:c.*1257dup
ARNT transcript variant 2 NM_178426.1:c.*1356_*1357= NM_178426.1:c.*1357dup
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#.

46 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 EGP_SNPS ss14324616 Dec 05, 2003 (119)
2 ILLUMINA ss107694418 Feb 06, 2009 (130)
3 ILLUMINA ss159887346 Dec 01, 2009 (131)
4 ILLUMINA ss169992352 Jul 04, 2010 (132)
5 ILLUMINA ss479615283 Dec 20, 2016 (150)
6 1000GENOMES ss498994689 May 04, 2012 (137)
7 ILLUMINA ss536599436 Oct 11, 2018 (152)
8 LUNTER ss550980291 Apr 25, 2013 (138)
9 EVA-GONL ss975658398 Apr 01, 2015 (144)
10 1000GENOMES ss1367845970 Aug 28, 2014 (142)
11 EVA_DECODE ss1585039155 Apr 01, 2015 (144)
12 EVA_UK10K_ALSPAC ss1701221213 Apr 01, 2015 (144)
13 EVA_UK10K_TWINSUK ss1701221337 Apr 01, 2015 (144)
14 ILLUMINA ss1946007885 Dec 20, 2016 (150)
15 JJLAB ss2030348304 Sep 14, 2016 (149)
16 ILLUMINA ss2136285618 Dec 20, 2016 (150)
17 ILLUMINA ss2632572967 Nov 08, 2017 (151)
18 ILLUMINA ss2710682145 Nov 08, 2017 (151)
19 GNOMAD ss2761013252 Nov 08, 2017 (151)
20 SWEGEN ss2987711510 Nov 08, 2017 (151)
21 ILLUMINA ss3021132507 Nov 08, 2017 (151)
22 ILLUMINA ss3625549389 Oct 11, 2018 (152)
23 ILLUMINA ss3626201649 Oct 11, 2018 (152)
24 ILLUMINA ss3636027302 Oct 11, 2018 (152)
25 ILLUMINA ss3637785436 Oct 11, 2018 (152)
26 ILLUMINA ss3642794854 Oct 11, 2018 (152)
27 ILLUMINA ss3644503832 Oct 11, 2018 (152)
28 BIOINF_KMB_FNS_UNIBA ss3645071490 Oct 11, 2018 (152)
29 ILLUMINA ss3651466039 Oct 11, 2018 (152)
30 EGCUT_WGS ss3655652449 Jul 12, 2019 (153)
31 EVA_DECODE ss3687732178 Jul 12, 2019 (153)
32 ILLUMINA ss3725062126 Jul 12, 2019 (153)
33 ACPOP ss3727466140 Jul 12, 2019 (153)
34 ILLUMINA ss3744053543 Jul 12, 2019 (153)
35 PAGE_CC ss3770838378 Jul 12, 2019 (153)
36 KHV_HUMAN_GENOMES ss3799780098 Jul 12, 2019 (153)
37 EVA ss3826412756 Apr 25, 2020 (154)
38 KOGIC ss3945597304 Apr 25, 2020 (154)
39 TOPMED ss4467383180 Apr 25, 2021 (155)
40 1000G_HIGH_COVERAGE ss5244202490 Oct 12, 2022 (156)
41 HUGCELL_USP ss5444808741 Oct 12, 2022 (156)
42 1000G_HIGH_COVERAGE ss5517485957 Oct 12, 2022 (156)
43 SANFORD_IMAGENETICS ss5626541682 Oct 12, 2022 (156)
44 EVA ss5832631175 Oct 12, 2022 (156)
45 EVA ss5910144128 Oct 12, 2022 (156)
46 EVA ss5938333890 Oct 12, 2022 (156)
47 1000Genomes NC_000001.10 - 150783240 Oct 11, 2018 (152)
48 1000Genomes_30x NC_000001.11 - 150810764 Oct 12, 2022 (156)
49 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 150783240 Oct 11, 2018 (152)
50 Genetic variation in the Estonian population NC_000001.10 - 150783240 Oct 11, 2018 (152)
51 gnomAD - Genomes NC_000001.11 - 150810764 Apr 25, 2021 (155)
52 Genome of the Netherlands Release 5 NC_000001.10 - 150783240 Apr 25, 2020 (154)
53 Korean Genome Project NC_000001.11 - 150810764 Apr 25, 2020 (154)
54 Northern Sweden NC_000001.10 - 150783240 Jul 12, 2019 (153)
55 The PAGE Study NC_000001.11 - 150810764 Jul 12, 2019 (153)
56 TopMed NC_000001.11 - 150810764 Apr 25, 2021 (155)
57 UK 10K study - Twins NC_000001.10 - 150783240 Oct 11, 2018 (152)
58 ALFA NC_000001.11 - 150810764 Apr 25, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs386512009 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss159887346, ss550980291, ss1585039155, ss3642794854 NC_000001.9:149049863::G NC_000001.11:150810763:GG:GGG (self)
3610930, 1963141, 1390697, 855242, 751005, 1963141, ss479615283, ss498994689, ss536599436, ss975658398, ss1367845970, ss1701221213, ss1701221337, ss1946007885, ss2030348304, ss2136285618, ss2632572967, ss2710682145, ss2761013252, ss2987711510, ss3021132507, ss3625549389, ss3626201649, ss3636027302, ss3637785436, ss3644503832, ss3651466039, ss3655652449, ss3727466140, ss3744053543, ss3826412756, ss5626541682, ss5832631175, ss5938333890 NC_000001.10:150783239::G NC_000001.11:150810763:GG:GGG (self)
5011892, 26279344, 1975305, 59847, 30989515, ss3645071490, ss3687732178, ss3725062126, ss3770838378, ss3799780098, ss3945597304, ss4467383180, ss5244202490, ss5444808741, ss5517485957, ss5910144128 NC_000001.11:150810763::G NC_000001.11:150810763:GG:GGG (self)
14510479270 NC_000001.11:150810763:GG:GGG NC_000001.11:150810763:GG:GGG (self)
ss14324616, ss107694418, ss169992352 NT_004487.19:2271881::G NC_000001.11:150810763:GG:GGG (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 rs10305752

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.post761+d5e8e07