rs4520995

Homo sapiens
T>C
ALK : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0244 (7319/29934,GnomAD)
T==0233 (6790/29116,TOPMED)
T==0284 (1422/5008,1000G)
T==0239 (923/3854,ALSPAC)
T==0225 (834/3708,TWINSUK)
chr2:29895520 (GRCh38.p7) (2p23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
22 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.29895520T>C
GRCh37.p13 chr 2NC_000002.11:g.30118386T>C
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
1000GenomesAfricanSub1322T=0.248C=0.752
1000GenomesAmericanSub694T=0.320C=0.680
1000GenomesEast AsianSub1008T=0.205C=0.795
1000GenomesEuropeSub1006T=0.285C=0.715
1000GenomesGlobalStudy-wide5008T=0.284C=0.716
1000GenomesSouth AsianSub978T=0.380C=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.239C=0.761
The Genome Aggregation DatabaseAfricanSub8702T=0.244C=0.756
The Genome Aggregation DatabaseAmericanSub838T=0.290C=0.710
The Genome Aggregation DatabaseEast AsianSub1618T=0.247C=0.753
The Genome Aggregation DatabaseEuropeSub18474T=0.241C=0.758
The Genome Aggregation DatabaseGlobalStudy-wide29934T=0.244C=0.755
The Genome Aggregation DatabaseOtherSub302T=0.310C=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.233C=0.766
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.225C=0.775
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
rs45209950.000423alcohol consumption (maxi-drinks)24277619

eQTL of rs4520995 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 rs4520995 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 )
chr23010152830101608E067-16778
chr23010188930102019E067-16367
chr23010205630102782E067-15604
chr23010188930102019E068-16367
chr23010205630102782E068-15604
chr23014562230145676E06827236
chr23010152830101608E069-16778
chr23010188930102019E069-16367
chr23010205630102782E069-15604
chr23014562230145676E06927236
chr23010152830101608E070-16778
chr23010188930102019E070-16367
chr23010205630102782E070-15604
chr23010409030104466E070-13920
chr23014562230145676E07027236
chr23010152830101608E071-16778
chr23014562230145676E07127236
chr23010205630102782E072-15604
chr23014562230145676E07227236
chr23014562230145676E07327236
chr23010188930102019E074-16367
chr23010205630102782E074-15604








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr23014282630143866E06724440
chr23014390230144902E06725516
chr23014282630143866E06824440
chr23014390230144902E06825516
chr23014282630143866E06924440
chr23014390230144902E06925516
chr23014390230144902E07025516
chr23014282630143866E07124440
chr23014390230144902E07125516
chr23014282630143866E07224440
chr23014390230144902E07225516
chr23014282630143866E07324440
chr23014390230144902E07325516
chr23014282630143866E07424440
chr23014390230144902E07425516
chr23014390230144902E08225516