rs1592477

Homo sapiens
C>T
C16orf97 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0154 (4611/29934,GnomAD)
T=0145 (4239/29118,TOPMED)
T=0130 (650/5008,1000G)
T=0215 (827/3854,ALSPAC)
T=0212 (787/3708,TWINSUK)
chr16:52049779 (GRCh38.p7) (16q12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
59 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.52049779C>T
GRCh37.p13 chr 16NC_000016.9:g.52083691C>T

Gene: C16orf97, chromosome 16 open reading frame 97(minus strand)

Molecule type Change Amino acid[Codon] SO Term
C16orf97 transcriptNM_001242473.1:c.N/AIntron Variant
C16orf97 transcript variant X2XM_011523081.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.918T=0.082
1000GenomesAmericanSub694C=0.790T=0.210
1000GenomesEast AsianSub1008C=0.918T=0.082
1000GenomesEuropeSub1006C=0.808T=0.192
1000GenomesGlobalStudy-wide5008C=0.870T=0.130
1000GenomesSouth AsianSub978C=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.785T=0.215
The Genome Aggregation DatabaseAfricanSub8720C=0.914T=0.086
The Genome Aggregation DatabaseAmericanSub832C=0.750T=0.250
The Genome Aggregation DatabaseEast AsianSub1598C=0.889T=0.111
The Genome Aggregation DatabaseEuropeSub18482C=0.814T=0.185
The Genome Aggregation DatabaseGlobalStudy-wide29934C=0.846T=0.154
The Genome Aggregation DatabaseOtherSub302C=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.854T=0.145
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.788T=0.212
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
rs15924775.6E-05alcohol dependence24277619

eQTL of rs1592477 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 rs1592477 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 )
chr165208576452086022E0672073
chr165210192352102024E06718232
chr165210230252102953E06718611
chr165210296652103043E06719275
chr165210362352104187E06719932
chr165211256652113710E06728875
chr165210083952101427E06817148
chr165210192352102024E06818232
chr165210230252102953E06818611
chr165211256652113710E06828875
chr165208576452086022E0692073
chr165210083952101427E06917148
chr165210192352102024E06918232
chr165210362352104187E06919932
chr165211023452110298E06926543
chr165211032152111014E06926630
chr165211153052111920E06927839
chr165211204252112096E06928351
chr165211256652113710E06928875
chr165210230252102953E07018611
chr165210296652103043E07019275
chr165210362352104187E07019932
chr165210435852104559E07020667
chr165211032152111014E07026630
chr165208576452086022E0712073
chr165210192352102024E07118232
chr165210230252102953E07118611
chr165210296652103043E07119275
chr165210362352104187E07119932
chr165211009652110146E07126405
chr165211023452110298E07126543
chr165211256652113710E07128875
chr165208428852084756E072597
chr165208576452086022E0722073
chr165210083952101427E07217148
chr165210192352102024E07218232
chr165210230252102953E07218611
chr165210362352104187E07219932
chr165211256652113710E07228875
chr165210230252102953E07318611
chr165210296652103043E07319275
chr165211256652113710E07328875
chr165208576452086022E0742073
chr165210083952101427E07417148
chr165210192352102024E07418232
chr165210230252102953E07418611
chr165210296652103043E07419275
chr165210362352104187E07419932
chr165211023452110298E07426543
chr165211032152111014E07426630
chr165211256652113710E07428875
chr165212213852122427E08138447
chr165212251352122654E08138822
chr165212271352122768E08139022
chr165212284752122957E08139156
chr165212303552123153E08139344
chr165212325452123380E08139563
chr165212950952129670E08145818
chr165213046252130791E08146771