rs17350791

Homo sapiens
T>C
LOC107984516 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0405 (12122/29924,GnomAD)
C=0322 (9384/29118,TOPMED)
C=0436 (2181/5008,1000G)
C=0466 (1797/3854,ALSPAC)
C=0448 (1663/3708,TWINSUK)
chr12:22731542 (GRCh38.p7) (12p12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
32 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.22731542T>C
GRCh37.p13 chr 12NC_000012.11:g.22884476T>C

Gene: LOC107984516, uncharacterized LOC107984516(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107984516 transcriptXR_001749045.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.880C=0.120
1000GenomesAmericanSub694T=0.530C=0.470
1000GenomesEast AsianSub1008T=0.196C=0.804
1000GenomesEuropeSub1006T=0.506C=0.494
1000GenomesGlobalStudy-wide5008T=0.564C=0.436
1000GenomesSouth AsianSub978T=0.600C=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.534C=0.466
The Genome Aggregation DatabaseAfricanSub8720T=0.826C=0.174
The Genome Aggregation DatabaseAmericanSub834T=0.560C=0.440
The Genome Aggregation DatabaseEast AsianSub1606T=0.181C=0.819
The Genome Aggregation DatabaseEuropeSub18462T=0.522C=0.477
The Genome Aggregation DatabaseGlobalStudy-wide29924T=0.594C=0.405
The Genome Aggregation DatabaseOtherSub302T=0.630C=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.677C=0.322
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.552C=0.448
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
rs173507910.000487alcohol consumption (maxi-drinks)24277619

eQTL of rs17350791 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 rs17350791 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 )
chr122284026522840319E067-44157
chr122284014622840223E068-44253
chr122284026522840319E068-44157
chr122292048522920645E06836009
chr122283715322837356E070-47120
chr122292048522920645E07036009
chr122292094322921011E07036467
chr122283602122836067E071-48409
chr122283620722836379E071-48097
chr122283641122836705E071-47771
chr122283687622836958E071-47518
chr122283715322837356E071-47120
chr122283740022837450E071-47026
chr122283747822837543E071-46933
chr122283756822837874E071-46602
chr122284014622840223E071-44253
chr122284026522840319E071-44157
chr122288237022883564E071-912
chr122283687622836958E072-47518
chr122284014622840223E073-44253
chr122284026522840319E073-44157
chr122283687622836958E074-47518
chr122283715322837356E074-47120
chr122288197722882140E074-2336
chr122288214422882265E074-2211
chr122288237022883564E074-912
chr122288197722882140E081-2336
chr122288214422882265E081-2211
chr122288237022883564E081-912
chr122288591322886687E0811437
chr122288731122887391E0812835
chr122292048522920645E08236009