rs10735853

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0392 (11741/29946,GnomAD)
C=0348 (10135/29118,TOPMED)
C=0338 (1693/5008,1000G)
T==0466 (1795/3854,ALSPAC)
T==0461 (1710/3708,TWINSUK)
chr12:53924362 (GRCh38.p7) (12q13.13)
AD
GWASdb2
1   publication(s)
See rs on genome
14 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.53924362T>C
GRCh37.p13 chr 12NC_000012.11:g.54318146T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.911C=0.089
1000GenomesAmericanSub694T=0.500C=0.500
1000GenomesEast AsianSub1008T=0.656C=0.344
1000GenomesEuropeSub1006T=0.487C=0.513
1000GenomesGlobalStudy-wide5008T=0.662C=0.338
1000GenomesSouth AsianSub978T=0.630C=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.466C=0.534
The Genome Aggregation DatabaseAfricanSub8724T=0.847C=0.153
The Genome Aggregation DatabaseAmericanSub836T=0.540C=0.460
The Genome Aggregation DatabaseEast AsianSub1612T=0.604C=0.396
The Genome Aggregation DatabaseEuropeSub18472T=0.499C=0.500
The Genome Aggregation DatabaseGlobalStudy-wide29946T=0.607C=0.392
The Genome Aggregation DatabaseOtherSub302T=0.530C=0.470
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.651C=0.348
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.461C=0.539
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
rs107358530.000197alcohol consumption (maxi-drinks)24277619

eQTL of rs10735853 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 rs10735853 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 )
chr125431725554317613E070-533
chr125431774654317798E070-348
chr125431780554317855E070-291
chr125431823854318288E07092
chr125431835854319128E070212
chr125431921654319266E0701070
chr125431943254319515E0701286
chr125431961354319663E0701467
chr125431972554319788E0701579
chr125431983454319874E0701688
chr125431993054320106E0701784
chr125432015754320197E0702011
chr125431921654319266E0811070
chr125431835854319128E082212