rs330438

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0192 (5755/29894,GnomAD)
A=0189 (5529/29118,TOPMED)
A=0264 (1323/5008,1000G)
A=0186 (715/3854,ALSPAC)
A=0198 (734/3708,TWINSUK)
chr5:123977527 (GRCh38.p7) (5q23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
41 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.123977527C>A
GRCh37.p13 chr 5NC_000005.9:g.123313221C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.832A=0.168
1000GenomesAmericanSub694C=0.750A=0.250
1000GenomesEast AsianSub1008C=0.542A=0.458
1000GenomesEuropeSub1006C=0.814A=0.186
1000GenomesGlobalStudy-wide5008C=0.736A=0.264
1000GenomesSouth AsianSub978C=0.720A=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.814A=0.186
The Genome Aggregation DatabaseAfricanSub8722C=0.843A=0.157
The Genome Aggregation DatabaseAmericanSub836C=0.730A=0.270
The Genome Aggregation DatabaseEast AsianSub1604C=0.511A=0.489
The Genome Aggregation DatabaseEuropeSub18430C=0.819A=0.181
The Genome Aggregation DatabaseGlobalStudy-wide29894C=0.807A=0.192
The Genome Aggregation DatabaseOtherSub302C=0.880A=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.810A=0.189
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.802A=0.198
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
rs3304382.34E-05alcohol consumption23953852

eQTL of rs330438 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 rs330438 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 )
chr5123332933123333081E06719712
chr5123333224123333938E06720003
chr5123336210123336987E06722989
chr5123337008123337154E06723787
chr5123332933123333081E06819712
chr5123333224123333938E06820003
chr5123336210123336987E06822989
chr5123337008123337154E06823787
chr5123333224123333938E06920003
chr5123333224123333938E07020003
chr5123335298123335635E07022077
chr5123335762123335873E07022541
chr5123336210123336987E07022989
chr5123337008123337154E07023787
chr5123337211123337283E07023990
chr5123337523123337612E07024302
chr5123333224123333938E07120003
chr5123332933123333081E07219712
chr5123333224123333938E07220003
chr5123333224123333938E07320003
chr5123333224123333938E07420003
chr5123336210123336987E07422989
chr5123337008123337154E07423787
chr5123337211123337283E07423990
chr5123337523123337612E07424302
chr5123275727123275965E081-37256
chr5123276106123276553E081-36668
chr5123336210123336987E08122989
chr5123337008123337154E08123787
chr5123337211123337283E08123990
chr5123337523123337612E08124302
chr5123361092123361406E08147871
chr5123361557123361784E08148336
chr5123286062123286203E082-27018
chr5123332933123333081E08219712
chr5123333224123333938E08220003
chr5123336210123336987E08222989
chr5123337008123337154E08223787
chr5123337211123337283E08223990
chr5123337523123337612E08224302
chr5123361092123361406E08247871