rs12467802

Homo sapiens
C>G / C>T
ALK : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0115 (3463/29966,GnomAD)
T=0094 (2751/29116,TOPMED)
T=0164 (822/5008,1000G)
T=0100 (387/3854,ALSPAC)
T=0112 (414/3708,TWINSUK)
chr2:29524308 (GRCh38.p7) (2p23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
74 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.29524308C>G
GRCh38.p7 chr 2NC_000002.12:g.29524308C>T
GRCh37.p13 chr 2NC_000002.11:g.29747174C>G
GRCh37.p13 chr 2NC_000002.11:g.29747174C>T
ALK RefSeqGene LRG_488
ALK RefSeqGene LRG_488

Gene: ALK, anaplastic lymphoma receptor tyrosine kinase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ALK transcript variant 1NM_004304.4:c.N/AIntron Variant
ALK transcript variant X1XR_001738688.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.962T=0.038
1000GenomesAmericanSub694C=0.780T=0.220
1000GenomesEast AsianSub1008C=0.680T=0.320
1000GenomesEuropeSub1006C=0.894T=0.106
1000GenomesGlobalStudy-wide5008C=0.836T=0.164
1000GenomesSouth AsianSub978C=0.810T=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.900T=0.100
The Genome Aggregation DatabaseAfricanSub8724C=0.949T=0.051
The Genome Aggregation DatabaseAmericanSub838C=0.760T=0.240
The Genome Aggregation DatabaseEast AsianSub1616C=0.710T=0.290
The Genome Aggregation DatabaseEuropeSub18486C=0.874T=0.125
The Genome Aggregation DatabaseGlobalStudy-wide29966C=0.884T=0.115
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.905T=0.094
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.888T=0.112
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs124678027.4E-05alcohol dependence21703634

eQTL of rs12467802 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 rs12467802 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 )
chr2109532981109533094E067-15932
chr2109533273109533379E067-15647
chr2109579560109579625E06730534
chr2109579680109579748E06730654
chr2109533273109533379E068-15647
chr2109549280109549566E068254
chr2109549634109549704E068608
chr2109550108109550572E0681082
chr2109523390109523463E069-25563
chr2109532981109533094E069-15932
chr2109533273109533379E069-15647
chr2109538547109538921E069-10105
chr2109538951109539185E069-9841
chr2109595170109595612E06946144
chr2109595872109595970E06946846
chr2109511269109511535E070-37491
chr2109511674109511740E070-37286
chr2109532981109533094E070-15932
chr2109533273109533379E070-15647
chr2109538547109538921E070-10105
chr2109538951109539185E070-9841
chr2109541027109541148E070-7878
chr2109550108109550572E0701082
chr2109551623109551712E0702597
chr2109551765109552146E0702739
chr2109552156109552239E0703130
chr2109552469109552519E0703443
chr2109552678109552804E0703652
chr2109573895109574050E07024869
chr2109574076109574316E07025050
chr2109523390109523463E071-25563
chr2109532777109532827E071-16199
chr2109532981109533094E071-15932
chr2109533273109533379E071-15647
chr2109579560109579625E07130534
chr2109579680109579748E07130654
chr2109523390109523463E072-25563
chr2109538547109538921E072-10105
chr2109538951109539185E072-9841
chr2109579200109579254E07230174
chr2109579560109579625E07230534
chr2109579680109579748E07230654
chr2109595170109595612E07246144
chr2109595872109595970E07246846
chr2109533273109533379E073-15647
chr2109538547109538921E073-10105
chr2109523390109523463E074-25563
chr2109533273109533379E074-15647
chr2109533594109533844E074-15182
chr2109579200109579254E07430174
chr2109579560109579625E07430534
chr2109579680109579748E07430654
chr2109533273109533379E081-15647
chr2109533594109533844E081-15182
chr2109550108109550572E0811082
chr2109551077109551142E0812051
chr2109551159109551228E0812133
chr2109551404109551591E0812378
chr2109551623109551712E0812597
chr2109551765109552146E0812739
chr2109552156109552239E0813130
chr2109552469109552519E0813443
chr2109552678109552804E0813652
chr2109553085109553152E0814059
chr2109553377109553660E0814351
chr2109553965109554015E0814939
chr2109550108109550572E0821082
chr2109551623109551712E0822597
chr2109551765109552146E0822739
chr2109552156109552239E0823130
chr2109552469109552519E0823443
chr2109552678109552804E0823652
chr2109553085109553152E0824059
chr2109553377109553660E0824351