rs12622230

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0151 (4549/29956,GnomAD)
C=0128 (3742/29116,TOPMED)
C=0150 (750/5008,1000G)
C=0117 (451/3854,ALSPAC)
C=0117 (432/3708,TWINSUK)
chr2:45628176 (GRCh38.p7) (2p21)
AD
GWASdb2
1   publication(s)
See rs on genome
39 Enhancers around
27 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.45628176A>C
GRCh37.p13 chr 2NC_000002.11:g.45855315A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.844C=0.156
1000GenomesAmericanSub694A=0.880C=0.120
1000GenomesEast AsianSub1008A=0.749C=0.251
1000GenomesEuropeSub1006A=0.867C=0.133
1000GenomesGlobalStudy-wide5008A=0.850C=0.150
1000GenomesSouth AsianSub978A=0.930C=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.883C=0.117
The Genome Aggregation DatabaseAfricanSub8714A=0.853C=0.147
The Genome Aggregation DatabaseAmericanSub838A=0.860C=0.140
The Genome Aggregation DatabaseEast AsianSub1618A=0.713C=0.287
The Genome Aggregation DatabaseEuropeSub18484A=0.856C=0.143
The Genome Aggregation DatabaseGlobalStudy-wide29956A=0.848C=0.151
The Genome Aggregation DatabaseOtherSub302A=0.880C=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.871C=0.128
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.883C=0.117
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
rs126222300.0000402alcoholismpha002891
rs126222300.0000402alcohol dependence20201924

eQTL of rs12622230 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 rs12622230 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 )
chr24589553845895640E06740223
chr24589569545895750E06740380
chr24589611245896663E06740797
chr24583905245839305E068-16010
chr24588147945881640E06826164
chr24589376645893967E06838451
chr24581248345812802E069-42513
chr24589376645893967E06938451
chr24590161745902046E06946302
chr24582298645823115E070-32200
chr24587442245874485E07019107
chr24587456545874823E07019250
chr24588081845880993E07025503
chr24589376645893967E07038451
chr24588041245880484E07125097
chr24589376645893967E07138451
chr24590241045902989E07147095
chr24590311145903199E07147796
chr24590328345903438E07147968
chr24583905245839305E072-16010
chr24588041245880484E07225097
chr24590241045902989E07247095
chr24588229245882352E07326977
chr24589213945892231E07336824
chr24589611245896663E07340797
chr24590311145903199E07347796
chr24588041245880484E07425097
chr24588057345880800E07425258
chr24588081845880993E07425503
chr24588147945881640E07426164
chr24589376645893967E07438451
chr24583905245839305E081-16010
chr24588147945881640E08126164
chr24588229245882352E08126977
chr24589213945892231E08136824
chr24590241045902989E08147095
chr24588229245882352E08226977
chr24589213945892231E08236824
chr24590161745902046E08246302










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr24583746845838906E067-16409
chr24587025045871621E06714935
chr24587660545880308E06721290
chr24583746845838906E068-16409
chr24587025045871621E06814935
chr24587660545880308E06821290
chr24583746845838906E069-16409
chr24587025045871621E06914935
chr24587660545880308E06921290
chr24583746845838906E070-16409
chr24587660545880308E07021290
chr24583746845838906E071-16409
chr24587025045871621E07114935
chr24587660545880308E07121290
chr24583746845838906E072-16409
chr24587025045871621E07214935
chr24587660545880308E07221290
chr24583746845838906E073-16409
chr24587025045871621E07314935
chr24587660545880308E07321290
chr24583746845838906E074-16409
chr24587025045871621E07414935
chr24587660545880308E07421290
chr24583746845838906E081-16409
chr24587660545880308E08121290
chr24583746845838906E082-16409
chr24587660545880308E08221290