rs2433196

Homo sapiens
A>C
GCOM1 : Intron Variant
MYZAP : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0285 (8558/29934,GnomAD)
C=0215 (1077/5008,1000G)
C=0345 (1330/3854,ALSPAC)
C=0348 (1290/3708,TWINSUK)
chr15:57643221 (GRCh38.p7) (15q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
30 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.57643221A>C
GRCh37.p13 chr 15NC_000015.9:g.57935419A>C

Gene: GCOM1, GRINL1A complex locus 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GCOM1 transcript variant 1NM_001018090.6:c.N/AIntron Variant
GCOM1 transcript variant 2NM_001018091.6:c.N/AIntron Variant
GCOM1 transcript variant 14NM_001285900.3:c.N/AIntron Variant
GCOM1 transcript variant 10NR_104367.2:n.N/AIntron Variant
GCOM1 transcript variant 3NR_104368.2:n.N/AIntron Variant
GCOM1 transcript variant 4NR_104369.2:n.N/AIntron Variant
GCOM1 transcript variant 5NR_104370.2:n.N/AIntron Variant
GCOM1 transcript variant 9NR_104371.3:n.N/AIntron Variant

Gene: MYZAP, myocardial zonula adherens protein(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MYZAP transcript variant 1NM_001018100.4:c.N/AIntron Variant
MYZAP transcript variant 2NM_152451.7:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.845C=0.155
1000GenomesAmericanSub694A=0.650C=0.350
1000GenomesEast AsianSub1008A=0.914C=0.086
1000GenomesEuropeSub1006A=0.656C=0.344
1000GenomesGlobalStudy-wide5008A=0.785C=0.215
1000GenomesSouth AsianSub978A=0.800C=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.655C=0.345
The Genome Aggregation DatabaseAfricanSub8718A=0.819C=0.181
The Genome Aggregation DatabaseAmericanSub838A=0.640C=0.360
The Genome Aggregation DatabaseEast AsianSub1616A=0.899C=0.101
The Genome Aggregation DatabaseEuropeSub18460A=0.651C=0.349
The Genome Aggregation DatabaseGlobalStudy-wide29934A=0.714C=0.285
The Genome Aggregation DatabaseOtherSub302A=0.780C=0.220
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.652C=0.348
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs24331960.00066alcohol dependence20201924

eQTL of rs2433196 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 rs2433196 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 )
chr155791899557919271E067-16148
chr155797757357978382E06742154
chr155791899557919271E068-16148
chr155789644757897249E069-38170
chr155793301257933062E069-2357
chr155793309457933165E069-2254
chr155794359757944076E0698178
chr155794425757944318E0698838
chr155791865757918798E070-16621
chr155791899557919271E070-16148
chr155792740157927490E070-7929
chr155792757257928252E070-7167
chr155789644757897249E071-38170
chr155794587757945927E07110458
chr155794359757944076E0728178
chr155794425757944318E0728838
chr155794521057945307E0729791
chr155789644757897249E073-38170
chr155791196257912302E074-23117
chr155791232757912407E074-23012
chr155791899557919271E074-16148
chr155793432557934412E074-1007
chr155793448657934545E074-874
chr155792757257928252E081-7167
chr155792716557927209E082-8210
chr155792725657927365E082-8054
chr155792740157927490E082-7929
chr155792757257928252E082-7167
chr155792846857928518E082-6901
chr155792874457928794E082-6625