rs4983262

Homo sapiens
T>C
LOC728755 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0252 (7524/29840,GnomAD)
C=0248 (7245/29118,TOPMED)
C=0240 (1203/5008,1000G)
C=0262 (1011/3854,ALSPAC)
C=0251 (932/3708,TWINSUK)
chr14:27651788 (GRCh38.p7) (14q12)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.27651788T>C
GRCh37.p13 chr 14NC_000014.8:g.28120994T>C

Gene: LOC728755, uncharacterized LOC728755(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC728755 transcript variant X1XR_943665.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.772C=0.228
1000GenomesAmericanSub694T=0.580C=0.420
1000GenomesEast AsianSub1008T=0.820C=0.180
1000GenomesEuropeSub1006T=0.743C=0.257
1000GenomesGlobalStudy-wide5008T=0.760C=0.240
1000GenomesSouth AsianSub978T=0.820C=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.738C=0.262
The Genome Aggregation DatabaseAfricanSub8714T=0.758C=0.242
The Genome Aggregation DatabaseAmericanSub836T=0.570C=0.430
The Genome Aggregation DatabaseEast AsianSub1564T=0.798C=0.202
The Genome Aggregation DatabaseEuropeSub18424T=0.746C=0.253
The Genome Aggregation DatabaseGlobalStudy-wide29840T=0.747C=0.252
The Genome Aggregation DatabaseOtherSub302T=0.780C=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.751C=0.248
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.749C=0.251
PMID Title Author Journal
22481050Genetic influences on craving for alcohol.Agrawal AAddict Behav

P-Value

SNP ID p-value Traits Study
rs49832622.44E-05alcohol craving with or without dependence22481050

eQTL of rs4983262 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 rs4983262 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 )
chr142815761128157704E06736617
chr142815817428158527E06737180
chr142810335028103494E070-17500
chr142810353628104208E071-16786
chr142810353628104208E072-16786
chr142816969228169984E08148698