rs9874508

Homo sapiens
G>A
ALDH1L1-AS2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0466 (13932/29858,GnomAD)
G==0438 (12769/29118,TOPMED)
G==0468 (2346/5008,1000G)
A=0438 (1688/3854,ALSPAC)
A=0452 (1676/3708,TWINSUK)
chr3:126183574 (GRCh38.p7) (3q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
31 Enhancers around
36 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.126183574G>A
GRCh37.p13 chr 3NC_000003.11:g.125902417G>A
ALDH1L1 RefSeqGeneNG_012260.1:g.2069C>T

Gene: ALDH1L1-AS2, ALDH1L1 antisense RNA 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ALDH1L1-AS2 transcriptNR_046383.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.267A=0.733
1000GenomesAmericanSub694G=0.460A=0.540
1000GenomesEast AsianSub1008G=0.513A=0.487
1000GenomesEuropeSub1006G=0.524A=0.476
1000GenomesGlobalStudy-wide5008G=0.468A=0.532
1000GenomesSouth AsianSub978G=0.640A=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.562A=0.438
The Genome Aggregation DatabaseAfricanSub8698G=0.328A=0.672
The Genome Aggregation DatabaseAmericanSub834G=0.530A=0.470
The Genome Aggregation DatabaseEast AsianSub1602G=0.493A=0.507
The Genome Aggregation DatabaseEuropeSub18422G=0.526A=0.473
The Genome Aggregation DatabaseGlobalStudy-wide29858G=0.466A=0.533
The Genome Aggregation DatabaseOtherSub302G=0.530A=0.470
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.438A=0.561
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.548A=0.452
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
rs98745080.000237alcohol consumption (maxi-drinks)24277619

eQTL of rs9874508 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 rs9874508 in Fetal Brain

Probe ID Position Gene beta p-value
cg08481491chr3:125900108ALDH1L10.0424130903879753.4256e-14
cg20988073chr3:125900093ALDH1L10.04560977673846392.3069e-13

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 )
chr3125933092125933152E06730675
chr3125925524125925609E06823107
chr3125927123125927349E06824706
chr3125927518125927758E06825101
chr3125945310125945585E06842893
chr3125921236125921433E06918819
chr3125927123125927349E07024706
chr3125927518125927758E07025101
chr3125927518125927758E07125101
chr3125933092125933152E07130675
chr3125853067125853487E072-48930
chr3125921236125921433E07218819
chr3125878106125878289E073-24128
chr3125921236125921433E07318819
chr3125927123125927349E07324706
chr3125927518125927758E07325101
chr3125928006125928087E07325589
chr3125933092125933152E07330675
chr3125903304125903409E074887
chr3125921236125921433E07418819
chr3125927123125927349E07424706
chr3125927518125927758E07425101
chr3125928006125928087E07425589
chr3125933092125933152E07430675
chr3125853067125853487E081-48930
chr3125921236125921433E08118819
chr3125922225125922431E08119808
chr3125924487125924587E08122070
chr3125925081125925414E08122664
chr3125933092125933152E08130675
chr3125921236125921433E08218819










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3125898194125898244E067-4173
chr3125898362125899209E067-3208
chr3125899244125900199E067-2218
chr3125931437125932766E06729020
chr3125897759125898050E068-4367
chr3125898194125898244E068-4173
chr3125898362125899209E068-3208
chr3125899244125900199E068-2218
chr3125931437125932766E06829020
chr3125897759125898050E069-4367
chr3125898194125898244E069-4173
chr3125898362125899209E069-3208
chr3125899244125900199E069-2218
chr3125931437125932766E06929020
chr3125931437125932766E07029020
chr3125897759125898050E071-4367
chr3125898194125898244E071-4173
chr3125898362125899209E071-3208
chr3125899244125900199E071-2218
chr3125931437125932766E07129020
chr3125898194125898244E072-4173
chr3125898362125899209E072-3208
chr3125899244125900199E072-2218
chr3125931437125932766E07229020
chr3125897759125898050E073-4367
chr3125898194125898244E073-4173
chr3125898362125899209E073-3208
chr3125899244125900199E073-2218
chr3125931437125932766E07329020
chr3125897759125898050E074-4367
chr3125898194125898244E074-4173
chr3125898362125899209E074-3208
chr3125899244125900199E074-2218
chr3125931437125932766E07429020
chr3125899244125900199E082-2218
chr3125931437125932766E08229020