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rs11958464
Organism:
Homo sapiens
Alleles:
C>T
Gene : Feature
None
p-value:
Check p-value
Variation Type:
SNV (Single Nucleotide Variation)
Frequency:
T=0437 (13015/29760,GnomAD)
T=0492 (14353/29118,TOPMED)
T=0461 (2310/5008,1000G)
T=0367 (1414/3854,ALSPAC)
T=0367 (1361/3708,TWINSUK)
Position:
chr5:46211801 (GRCh38.p7) (5p11)
Phenotype:
AD
Dataset:
GWASdb2
Publications:
1 publication(s)
Genomic View:
See rs on genome
Enhancer:
0 Enhancer around
Promoter:
0 Promoter around
Variant Details
Frequency
Publications
p-values
eSNP
meSNP
Genomic Coordinates
Sequence Name
Change(s)
GRCh38.p7 chr 5
NC_000005.10:g.46211801C>T
GRCh37.p13 chr 5
NC_000005.9:g.46211903C>T
Population Frequency
Study
Population
Group
Sample #
Ref Allele
Alt Allele
1000Genomes
African
Sub
1322
C=0.310
T=0.690
1000Genomes
American
Sub
694
C=0.660
T=0.340
1000Genomes
East Asian
Sub
1008
C=0.531
T=0.469
1000Genomes
Europe
Sub
1006
C=0.666
T=0.334
1000Genomes
Global
Study-wide
5008
C=0.539
T=0.461
1000Genomes
South Asian
Sub
978
C=0.640
T=0.360
The Avon Longitudinal Study of Parents and Children
PARENT AND CHILD COHORT
Study-wide
3854
C=0.633
T=0.367
The Genome Aggregation Database
African
Sub
8698
C=0.336
T=0.664
The Genome Aggregation Database
American
Sub
832
C=0.660
T=0.340
The Genome Aggregation Database
East Asian
Sub
1572
C=0.488
T=0.512
The Genome Aggregation Database
Europe
Sub
18356
C=0.670
T=0.329
The Genome Aggregation Database
Global
Study-wide
29760
C=0.562
T=0.437
The Genome Aggregation Database
Other
Sub
302
C=0.680
T=0.320
Trans-Omics for Precision Medicine
Global
Study-wide
29118
C=0.507
T=0.492
UK 10K study - Twins
TWIN COHORT
Study-wide
3708
C=0.633
T=0.367
PMID
Title
Author
Journal
20201924
Genome-wide association study of alcohol dependence implicates a region on chromosome 11.
Edenberg HJ
Alcohol Clin Exp Res
P-Value
SNP ID
p-value
Traits
Study
rs11958464
0.000371
alcohol dependence
20201924
eQTL of rs11958464 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 rs11958464 in Fetal Brain
Probe ID
Position
Gene
beta
p-value
cg15950743
chr5:49708521
EMB
-0.0836148609967316
3.2068e-29
Genomic View
GRCh38.p7 chr 5(NC_000005.10:g.46211801C>T)
GRCh37.p13 chr 5(NC_000005.9:g.46211903C>T)
Chromatin Interaction
There is no significant Hi-C chromatin interaction data for this SNP.