rs9680021

Homo sapiens
A>C
LOC101929486 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0195 (5862/29940,GnomAD)
C=0175 (5123/29118,TOPMED)
C=0188 (943/5008,1000G)
C=0236 (910/3854,ALSPAC)
C=0234 (868/3708,TWINSUK)
chr20:12917973 (GRCh38.p7) (20p12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
35 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.12917973A>C
GRCh37.p13 chr 20NC_000020.10:g.12898621A>C

Gene: LOC101929486, uncharacterized LOC101929486(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LINC01722 transcriptNR_109868.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.937C=0.063
1000GenomesAmericanSub694A=0.710C=0.290
1000GenomesEast AsianSub1008A=0.824C=0.176
1000GenomesEuropeSub1006A=0.759C=0.241
1000GenomesGlobalStudy-wide5008A=0.812C=0.188
1000GenomesSouth AsianSub978A=0.750C=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.764C=0.236
The Genome Aggregation DatabaseAfricanSub8716A=0.928C=0.072
The Genome Aggregation DatabaseAmericanSub834A=0.680C=0.320
The Genome Aggregation DatabaseEast AsianSub1616A=0.798C=0.202
The Genome Aggregation DatabaseEuropeSub18474A=0.753C=0.246
The Genome Aggregation DatabaseGlobalStudy-wide29940A=0.804C=0.195
The Genome Aggregation DatabaseOtherSub300A=0.700C=0.300
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.824C=0.175
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.766C=0.234
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
rs96800210.000984alcohol dependence24277619

eQTL of rs9680021 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 rs9680021 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 )
chr201290541612905568E0686795
chr201290580912906405E0687188
chr201294563612945758E06847015
chr201294576212945839E06847141
chr201294622812946466E06847607
chr201294656312946927E06847942
chr201294622812946466E06947607
chr201294656312946927E06947942
chr201285690912856986E070-41635
chr201285766112857705E070-40916
chr201290456012904670E0705939
chr201290491312905031E0706292
chr201294622812946466E07047607
chr201290520512905354E0716584
chr201290541612905568E0716795
chr201290580912906405E0717188
chr201294563612945758E07147015
chr201294576212945839E07147141
chr201294622812946466E07147607
chr201290541612905568E0726795
chr201294576212945839E07247141
chr201294622812946466E07247607
chr201294622812946466E07447607
chr201294656312946927E07447942
chr201290580912906405E0817188
chr201290640912906505E0817788
chr201290651912906571E0817898
chr201294622812946466E08147607
chr201294656312946927E08147942
chr201294745412947562E08148833
chr201294771212947787E08149091
chr201294783012947882E08149209
chr201290541612905568E0826795
chr201294745412947562E08248833
chr201294771212947787E08249091