rs42771

Homo sapiens
G>A
C16orf97 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0207 (6188/29900,GnomAD)
A=0201 (5854/29118,TOPMED)
A=0179 (897/5008,1000G)
A=0267 (1029/3854,ALSPAC)
A=0267 (989/3708,TWINSUK)
chr16:52070835 (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.52070835G>A
GRCh37.p13 chr 16NC_000016.9:g.52104747G>A

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
1000GenomesAfricanSub1322G=0.871A=0.129
1000GenomesAmericanSub694G=0.840A=0.160
1000GenomesEast AsianSub1008G=0.930A=0.070
1000GenomesEuropeSub1006G=0.737A=0.263
1000GenomesGlobalStudy-wide5008G=0.821A=0.179
1000GenomesSouth AsianSub978G=0.710A=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.733A=0.267
The Genome Aggregation DatabaseAfricanSub8714G=0.866A=0.134
The Genome Aggregation DatabaseAmericanSub836G=0.830A=0.170
The Genome Aggregation DatabaseEast AsianSub1588G=0.936A=0.064
The Genome Aggregation DatabaseEuropeSub18460G=0.745A=0.254
The Genome Aggregation DatabaseGlobalStudy-wide29900G=0.793A=0.207
The Genome Aggregation DatabaseOtherSub302G=0.730A=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.799A=0.201
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.733A=0.267
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
rs427710.000627alcohol dependence24277619

eQTL of rs42771 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 rs42771 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 )
chr165208576452086022E067-18725
chr165210192352102024E067-2723
chr165210230252102953E067-1794
chr165210296652103043E067-1704
chr165210362352104187E067-560
chr165211256652113710E0677819
chr165210083952101427E068-3320
chr165210192352102024E068-2723
chr165210230252102953E068-1794
chr165211256652113710E0687819
chr165208576452086022E069-18725
chr165210083952101427E069-3320
chr165210192352102024E069-2723
chr165210362352104187E069-560
chr165211023452110298E0695487
chr165211032152111014E0695574
chr165211153052111920E0696783
chr165211204252112096E0697295
chr165211256652113710E0697819
chr165210230252102953E070-1794
chr165210296652103043E070-1704
chr165210362352104187E070-560
chr165210435852104559E070-188
chr165211032152111014E0705574
chr165208576452086022E071-18725
chr165210192352102024E071-2723
chr165210230252102953E071-1794
chr165210296652103043E071-1704
chr165210362352104187E071-560
chr165211009652110146E0715349
chr165211023452110298E0715487
chr165211256652113710E0717819
chr165208428852084756E072-19991
chr165208576452086022E072-18725
chr165210083952101427E072-3320
chr165210192352102024E072-2723
chr165210230252102953E072-1794
chr165210362352104187E072-560
chr165211256652113710E0727819
chr165210230252102953E073-1794
chr165210296652103043E073-1704
chr165211256652113710E0737819
chr165208576452086022E074-18725
chr165210083952101427E074-3320
chr165210192352102024E074-2723
chr165210230252102953E074-1794
chr165210296652103043E074-1704
chr165210362352104187E074-560
chr165211023452110298E0745487
chr165211032152111014E0745574
chr165211256652113710E0747819
chr165212213852122427E08117391
chr165212251352122654E08117766
chr165212271352122768E08117966
chr165212284752122957E08118100
chr165212303552123153E08118288
chr165212325452123380E08118507
chr165212950952129670E08124762
chr165213046252130791E08125715