rs11620406

Homo sapiens
C>T
LOC105370176 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0147 (4427/29946,GnomAD)
T=0149 (4340/29116,TOPMED)
T=0148 (740/5008,1000G)
T=0192 (741/3854,ALSPAC)
T=0181 (671/3708,TWINSUK)
chr13:41986636 (GRCh38.p7) (13q14.11)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.41986636C>T
GRCh37.p13 chr 13NC_000013.10:g.42560772C>T

Gene: LOC105370176, uncharacterized LOC105370176(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370176 transcriptXR_941905.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.897T=0.103
1000GenomesAmericanSub694C=0.890T=0.110
1000GenomesEast AsianSub1008C=0.868T=0.132
1000GenomesEuropeSub1006C=0.823T=0.177
1000GenomesGlobalStudy-wide5008C=0.852T=0.148
1000GenomesSouth AsianSub978C=0.780T=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.808T=0.192
The Genome Aggregation DatabaseAfricanSub8716C=0.897T=0.103
The Genome Aggregation DatabaseAmericanSub836C=0.900T=0.100
The Genome Aggregation DatabaseEast AsianSub1620C=0.875T=0.125
The Genome Aggregation DatabaseEuropeSub18474C=0.826T=0.173
The Genome Aggregation DatabaseGlobalStudy-wide29946C=0.852T=0.147
The Genome Aggregation DatabaseOtherSub300C=0.860T=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.850T=0.149
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.819T=0.181
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs116204067.9E-05alcoholism (heaviness of drinking)21529783

eQTL of rs11620406 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 rs11620406 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 )
chr134253257842532710E068-28062
chr134253275642532816E068-27956
chr134253292142532994E068-27778
chr134253309842533289E068-27483
chr134253340142533603E068-27169
chr134253366042533710E068-27062
chr134253377642533864E068-26908
chr134253257842532710E069-28062
chr134253275642532816E069-27956
chr134253292142532994E069-27778
chr134253309842533289E069-27483
chr134253340142533603E069-27169
chr134253366042533710E069-27062
chr134253377642533864E069-26908
chr134253593542536262E069-24510
chr134253635842536629E069-24143
chr134253257842532710E071-28062
chr134253275642532816E071-27956
chr134253292142532994E071-27778
chr134253309842533289E071-27483
chr134253593542536262E071-24510
chr134253257842532710E072-28062
chr134253275642532816E072-27956
chr134253292142532994E072-27778
chr134253309842533289E072-27483
chr134253593542536262E072-24510
chr134254727842547875E072-12897
chr134253593542536262E073-24510
chr134251659842517219E074-43553
chr134253257842532710E074-28062
chr134253275642532816E074-27956
chr134253292142532994E074-27778
chr134253309842533289E074-27483
chr134253340142533603E074-27169
chr134253366042533710E074-27062
chr134253377642533864E074-26908
chr134253377642533864E081-26908







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr134253413442535909E067-24863
chr134253413442535909E068-24863
chr134253413442535909E069-24863
chr134253413442535909E070-24863
chr134253413442535909E071-24863
chr134253413442535909E072-24863
chr134253413442535909E073-24863
chr134253413442535909E074-24863
chr134253413442535909E081-24863
chr134253413442535909E082-24863