rs4807101

Homo sapiens
C>T
VAV1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0367 (10958/29832,GnomAD)
T=0340 (9906/29118,TOPMED)
T=0323 (1619/5008,1000G)
T=0440 (1695/3854,ALSPAC)
T=0444 (1647/3708,TWINSUK)
chr19:6815937 (GRCh38.p7) (19p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
13 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.6815937C>T
GRCh37.p13 chr 19NC_000019.9:g.6815948C>T

Gene: VAV1, vav 1 guanine nucleotide exchange factor(plus strand)

Molecule type Change Amino acid[Codon] SO Term
VAV1 transcript variant 2NM_001258206.1:c.N/AIntron Variant
VAV1 transcript variant 3NM_001258207.1:c.N/AIntron Variant
VAV1 transcript variant 1NM_005428.3:c.N/AIntron Variant
VAV1 transcript variant X1XM_005259642.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.862T=0.138
1000GenomesAmericanSub694C=0.650T=0.350
1000GenomesEast AsianSub1008C=0.643T=0.357
1000GenomesEuropeSub1006C=0.586T=0.414
1000GenomesGlobalStudy-wide5008C=0.677T=0.323
1000GenomesSouth AsianSub978C=0.570T=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.560T=0.440
The Genome Aggregation DatabaseAfricanSub8702C=0.803T=0.197
The Genome Aggregation DatabaseAmericanSub836C=0.610T=0.390
The Genome Aggregation DatabaseEast AsianSub1614C=0.647T=0.353
The Genome Aggregation DatabaseEuropeSub18378C=0.552T=0.447
The Genome Aggregation DatabaseGlobalStudy-wide29832C=0.632T=0.367
The Genome Aggregation DatabaseOtherSub302C=0.550T=0.450
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.659T=0.340
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.556T=0.444
PMID Title Author Journal
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs48071011.06E-05alcohol dependence23089632

eQTL of rs4807101 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 rs4807101 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 )
chr1967810616781611E071-34337
chr1967816296781699E081-34249
chr1967820276782113E081-33835
chr1968624896862608E08146541
chr1967816296781699E082-34249



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1967718766774118E068-41830
chr1968281786828292E06812230
chr1968283006828679E06812352
chr1968626636863206E06846715
chr1968633216863940E06847373
chr1967718766774118E071-41830
chr1968626636863206E07146715
chr1968633216863940E07147373
chr1968626636863206E07246715
chr1968633216863940E07247373
chr1967718766774118E074-41830
chr1968626636863206E07446715
chr1968633216863940E07447373