rs2513630

Homo sapiens
G>A / G>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0064 (1932/29976,GnomAD)
T=0097 (2848/29118,TOPMED)
T=0072 (360/5008,1000G)
chr11:115573237 (GRCh38.p7) (11q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
34 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.115573237G>A
GRCh38.p7 chr 11NC_000011.10:g.115573237G>T
GRCh37.p13 chr 11NC_000011.9:g.115443955G>A
GRCh37.p13 chr 11NC_000011.9:g.115443955G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.766T=0.234
1000GenomesAmericanSub694G=0.970T=0.030
1000GenomesEast AsianSub1008G=0.985T=0.015
1000GenomesEuropeSub1006G=0.982T=0.018
1000GenomesGlobalStudy-wide5008G=0.928T=0.072
1000GenomesSouth AsianSub978G=1.000T=0.000
The Genome Aggregation DatabaseAfricanSub8720G=0.802A=0.000
The Genome Aggregation DatabaseAmericanSub838G=0.980A=0.00,
The Genome Aggregation DatabaseEast AsianSub1616G=0.981A=0.000
The Genome Aggregation DatabaseEuropeSub18500G=0.991A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29976G=0.935A=0.000
The Genome Aggregation DatabaseOtherSub302G=0.990A=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.902T=0.097
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs25136302.95E-05alcohol consumption23953852

eQTL of rs2513630 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs2513630 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr114121077841210828E06739297
chr114121084741211026E06739366
chr114121107841211206E06739597
chr114121077841210828E06839297
chr114121084741211026E06839366
chr114121107841211206E06839597
chr114121128841211338E06839807
chr114121141041211598E06839929
chr114121209541212188E06840614
chr114121077841210828E06939297
chr114121084741211026E06939366
chr114121107841211206E06939597
chr114121128841211338E06939807
chr114121141041211598E06939929
chr114121077841210828E07139297
chr114121084741211026E07139366
chr114121107841211206E07139597
chr114121128841211338E07139807
chr114121141041211598E07139929
chr114121209541212188E07140614
chr114121077841210828E07239297
chr114121084741211026E07239366
chr114121107841211206E07239597
chr114121128841211338E07239807
chr114121141041211598E07239929
chr114121209541212188E07240614
chr114121077841210828E07439297
chr114121084741211026E07439366
chr114121107841211206E07439597
chr114121128841211338E07439807
chr114121141041211598E07439929
chr114121209541212188E07440614
chr114115625941156313E081-15168
chr114115645441157005E081-14476