rs7580476

Homo sapiens
C>T
ALK : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0250 (7494/29924,GnomAD)
T=0267 (7789/29116,TOPMED)
T=0253 (1267/5008,1000G)
T=0234 (902/3854,ALSPAC)
T=0228 (844/3708,TWINSUK)
chr2:29460692 (GRCh38.p7) (2p23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
53 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.29460692C>T
GRCh37.p13 chr 2NC_000002.11:g.29683558C>T
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=0.735T=0.265
1000GenomesAmericanSub694C=0.810T=0.190
1000GenomesEast AsianSub1008C=0.658T=0.342
1000GenomesEuropeSub1006C=0.743T=0.257
1000GenomesGlobalStudy-wide5008C=0.747T=0.253
1000GenomesSouth AsianSub978C=0.820T=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.766T=0.234
The Genome Aggregation DatabaseAfricanSub8710C=0.743T=0.257
The Genome Aggregation DatabaseAmericanSub834C=0.800T=0.200
The Genome Aggregation DatabaseEast AsianSub1602C=0.665T=0.335
The Genome Aggregation DatabaseEuropeSub18476C=0.758T=0.241
The Genome Aggregation DatabaseGlobalStudy-wide29924C=0.749T=0.250
The Genome Aggregation DatabaseOtherSub302C=0.710T=0.290
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.732T=0.267
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.772T=0.228
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs75804760.000633alcohol consumption (maxi-drinks)24277619

eQTL of rs7580476 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 rs7580476 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 )
chr22967822229678469E067-5089
chr22967848229678714E067-4844
chr22967848229678714E068-4844
chr22964335029643628E069-39930
chr22964379129643881E069-39677
chr22964398629644036E069-39522
chr22963721829637840E070-45718
chr22964335029643628E070-39930
chr22964379129643881E070-39677
chr22964398629644036E070-39522
chr22964406329644138E070-39420
chr22966604929666282E070-17276
chr22966628829666462E070-17096
chr22966661429666768E070-16790
chr22966681229666997E070-16561
chr22966710429667204E070-16354
chr22966944829669688E070-13870
chr22966970329670008E070-13550
chr22967107829671257E070-12301
chr22967128929671402E070-12156
chr22967175929671837E070-11721
chr22967241329672689E070-10869
chr22971869429718941E07035136
chr22972152829721724E07037970
chr22964379129643881E071-39677
chr22967848229678714E071-4844
chr22969836729698442E07114809
chr22969854429698727E07114986
chr22964335029643628E072-39930
chr22964379129643881E072-39677
chr22964398629644036E072-39522
chr22967848229678714E072-4844
chr22967822229678469E073-5089
chr22967848229678714E073-4844
chr22971800229718087E07334444
chr22971852929718610E07334971
chr22967822229678469E074-5089
chr22967848229678714E074-4844
chr22967918129679285E074-4273
chr22969836729698442E07414809
chr22969854429698727E07414986
chr22964379129643881E081-39677
chr22964398629644036E081-39522
chr22964406329644138E081-39420
chr22964419129644606E081-38952
chr22966604929666282E081-17276
chr22966628829666462E081-17096
chr22966970329670008E081-13550
chr22971561029716040E08132052
chr22966604929666282E082-17276
chr22966628829666462E082-17096
chr22966661429666768E082-16790
chr22971561029716040E08232052