rs10130248

Homo sapiens
A>G
LOC728755 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0254 (7576/29792,GnomAD)
A==0267 (7793/29118,TOPMED)
A==0261 (1309/5008,1000G)
A==0249 (958/3854,ALSPAC)
A==0252 (936/3708,TWINSUK)
chr14:27650395 (GRCh38.p7) (14q12)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.27650395A>G
GRCh37.p13 chr 14NC_000014.8:g.28119601A>G

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
1000GenomesAfricanSub1322A=0.213G=0.787
1000GenomesAmericanSub694A=0.240G=0.760
1000GenomesEast AsianSub1008A=0.270G=0.730
1000GenomesEuropeSub1006A=0.271G=0.729
1000GenomesGlobalStudy-wide5008A=0.261G=0.739
1000GenomesSouth AsianSub978A=0.320G=0.680
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.249G=0.751
The Genome Aggregation DatabaseAfricanSub8702A=0.228G=0.772
The Genome Aggregation DatabaseAmericanSub826A=0.230G=0.770
The Genome Aggregation DatabaseEast AsianSub1560A=0.280G=0.720
The Genome Aggregation DatabaseEuropeSub18402A=0.263G=0.736
The Genome Aggregation DatabaseGlobalStudy-wide29792A=0.254G=0.745
The Genome Aggregation DatabaseOtherSub302A=0.410G=0.590
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.267G=0.732
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.252G=0.748
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
rs101302480.000461alcohol dependence24277619

eQTL of rs10130248 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 rs10130248 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 )
chr142815761128157704E06738010
chr142815817428158527E06738573
chr142810335028103494E070-16107
chr142810353628104208E071-15393
chr142810353628104208E072-15393