rs4629153

Homo sapiens
C>T
VWC2L : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0228 (6810/29870,GnomAD)
T=0218 (6355/29118,TOPMED)
T=0227 (1139/5008,1000G)
T=0239 (922/3854,ALSPAC)
T=0230 (854/3708,TWINSUK)
chr2:214492214 (GRCh38.p7) (2q34)
AD
GWASdb2
1   publication(s)
See rs on genome
40 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.214492214C>T
GRCh37.p13 chr 2NC_000002.11:g.215356938C>T

Gene: VWC2L, von Willebrand factor C domain containing protein 2-like(plus strand)

Molecule type Change Amino acid[Codon] SO Term
VWC2L transcriptNM_001080500.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.819T=0.181
1000GenomesAmericanSub694C=0.680T=0.320
1000GenomesEast AsianSub1008C=0.747T=0.253
1000GenomesEuropeSub1006C=0.772T=0.228
1000GenomesGlobalStudy-wide5008C=0.773T=0.227
1000GenomesSouth AsianSub978C=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.761T=0.239
The Genome Aggregation DatabaseAfricanSub8714C=0.814T=0.186
The Genome Aggregation DatabaseAmericanSub822C=0.690T=0.310
The Genome Aggregation DatabaseEast AsianSub1604C=0.729T=0.271
The Genome Aggregation DatabaseEuropeSub18428C=0.760T=0.239
The Genome Aggregation DatabaseGlobalStudy-wide29870C=0.772T=0.228
The Genome Aggregation DatabaseOtherSub302C=0.720T=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.781T=0.218
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.770T=0.230
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
rs46291530.00038alcohol dependence(early age of onset)20201924
rs46291530.00038alcohol dependence20201924

eQTL of rs4629153 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 rs4629153 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 )
chr2215345728215345883E067-11055
chr2215346010215346232E067-10706
chr2215346603215346744E067-10194
chr2215347475215347884E067-9054
chr2215349103215349270E067-7668
chr2215379495215379597E06722557
chr2215379599215379667E06722661
chr2215330046215330806E068-26132
chr2215345728215345883E068-11055
chr2215346010215346232E068-10706
chr2215346603215346744E068-10194
chr2215347475215347884E068-9054
chr2215345728215345883E069-11055
chr2215346010215346232E069-10706
chr2215346603215346744E069-10194
chr2215379495215379597E06922557
chr2215379599215379667E06922661
chr2215379495215379597E07022557
chr2215379599215379667E07022661
chr2215380137215380241E07023199
chr2215345728215345883E071-11055
chr2215346010215346232E071-10706
chr2215346603215346744E071-10194
chr2215347475215347884E071-9054
chr2215349103215349270E071-7668
chr2215379599215379667E07122661
chr2215345728215345883E072-11055
chr2215346010215346232E072-10706
chr2215346603215346744E072-10194
chr2215347475215347884E072-9054
chr2215349103215349270E072-7668
chr2215379495215379597E07222557
chr2215379599215379667E07222661
chr2215380137215380241E07223199
chr2215346010215346232E073-10706
chr2215345728215345883E074-11055
chr2215346010215346232E074-10706
chr2215346603215346744E074-10194
chr2215379495215379597E08122557
chr2215379599215379667E08122661