rs721793

Homo sapiens
C>T
LOC107984526 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0155 (4653/29944,GnomAD)
T=0141 (4127/29118,TOPMED)
T=0226 (1131/5008,1000G)
T=0152 (587/3854,ALSPAC)
T=0144 (535/3708,TWINSUK)
chr12:68040234 (GRCh38.p7) (12q15)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.68040234C>T
GRCh37.p13 chr 12NC_000012.11:g.68434014C>T

Gene: LOC107984526, uncharacterized LOC107984526(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107984526 transcript variant X1XR_001749190.1:n.N/AIntron Variant
LOC107984526 transcript variant X2XR_001749191.1:n.N/AIntron Variant
LOC107984526 transcript variant X3XR_001749192.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.896T=0.104
1000GenomesAmericanSub694C=0.710T=0.290
1000GenomesEast AsianSub1008C=0.595T=0.405
1000GenomesEuropeSub1006C=0.890T=0.110
1000GenomesGlobalStudy-wide5008C=0.774T=0.226
1000GenomesSouth AsianSub978C=0.720T=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.848T=0.152
The Genome Aggregation DatabaseAfricanSub8722C=0.866T=0.134
The Genome Aggregation DatabaseAmericanSub836C=0.730T=0.270
The Genome Aggregation DatabaseEast AsianSub1618C=0.554T=0.446
The Genome Aggregation DatabaseEuropeSub18466C=0.864T=0.135
The Genome Aggregation DatabaseGlobalStudy-wide29944C=0.844T=0.155
The Genome Aggregation DatabaseOtherSub302C=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.858T=0.141
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.856T=0.144
PMID Title Author Journal
22481050Genetic influences on craving for alcohol.Agrawal AAddict Behav

P-Value

SNP ID p-value Traits Study
rs7217932.28E-05alcohol craving with or without dependence22481050

eQTL of rs721793 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 rs721793 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 )
chr126844292568443002E0688911
chr126844314368443193E0689129
chr126844331168443361E0689297
chr126844277868442921E0718764
chr126844292568443002E0718911
chr126844314368443193E0719129
chr126844277868442921E0728764
chr126844292568443002E0728911
chr126844314368443193E0729129
chr126844277868442921E0748764
chr126844292568443002E0748911
chr126844314368443193E0749129
chr126844331168443361E0749297