rs1490996

Homo sapiens
A>G
LOC105379160 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0254 (7608/29886,GnomAD)
A==0261 (7604/29118,TOPMED)
A==0175 (874/5008,1000G)
A==0296 (1142/3854,ALSPAC)
A==0331 (1228/3708,TWINSUK)
chr5:125610839 (GRCh38.p7) (5q23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
129 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.125610839A>G
GRCh37.p13 chr 5NC_000005.9:g.124946532A>G

Gene: LOC105379160, uncharacterized LOC105379160(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105379160 transcript variant X2XR_001742876.1:n.N/AIntron Variant
LOC105379160 transcript variant X1XR_948731.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.234G=0.766
1000GenomesAmericanSub694A=0.160G=0.840
1000GenomesEast AsianSub1008A=0.058G=0.942
1000GenomesEuropeSub1006A=0.285G=0.715
1000GenomesGlobalStudy-wide5008A=0.175G=0.825
1000GenomesSouth AsianSub978A=0.110G=0.890
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.296G=0.704
The Genome Aggregation DatabaseAfricanSub8708A=0.241G=0.759
The Genome Aggregation DatabaseAmericanSub836A=0.170G=0.830
The Genome Aggregation DatabaseEast AsianSub1590A=0.045G=0.955
The Genome Aggregation DatabaseEuropeSub18450A=0.282G=0.717
The Genome Aggregation DatabaseGlobalStudy-wide29886A=0.254G=0.745
The Genome Aggregation DatabaseOtherSub302A=0.290G=0.710
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.261G=0.738
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.331G=0.669
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
rs14909960.000928alcohol consumption (maxi-drinks)24277619

eQTL of rs1490996 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 rs1490996 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 )
chr5124910347124912130E067-34402
chr5124912542124912615E067-33917
chr5124912682124912828E067-33704
chr5124918836124919503E067-27029
chr5124919549124919757E067-26775
chr5124919789124920158E067-26374
chr5124947886124948714E0671354
chr5124990173124990456E06743641
chr5124990951124991138E06744419
chr5124993656124994057E06747124
chr5124994938124995017E06748406
chr5124995088124995166E06748556
chr5124908808124909098E068-37434
chr5124910243124910297E068-36235
chr5124910347124912130E068-34402
chr5124912542124912615E068-33917
chr5124912682124912828E068-33704
chr5124917033124917501E068-29031
chr5124917873124918072E068-28460
chr5124918112124918463E068-28069
chr5124918540124918597E068-27935
chr5124918627124918677E068-27855
chr5124918836124919503E068-27029
chr5124919549124919757E068-26775
chr5124919789124920158E068-26374
chr5124933074124933426E068-13106
chr5124947886124948714E0681354
chr5124991380124991514E06844848
chr5124993656124994057E06847124
chr5124994938124995017E06848406
chr5124995088124995166E06848556
chr5124995174124995261E06848642
chr5124995399124995721E06848867
chr5124995758124995899E06849226
chr5124910243124910297E069-36235
chr5124910347124912130E069-34402
chr5124912542124912615E069-33917
chr5124912682124912828E069-33704
chr5124917033124917501E069-29031
chr5124919549124919757E069-26775
chr5124919789124920158E069-26374
chr5124990173124990456E06943641
chr5124991380124991514E06944848
chr5124993123124993175E06946591
chr5124993656124994057E06947124
chr5124908808124909098E070-37434
chr5124910243124910297E070-36235
chr5124910347124912130E070-34402
chr5124912542124912615E070-33917
chr5124912682124912828E070-33704
chr5124917873124918072E070-28460
chr5124918112124918463E070-28069
chr5124918540124918597E070-27935
chr5124918627124918677E070-27855
chr5124918836124919503E070-27029
chr5124919549124919757E070-26775
chr5124919789124920158E070-26374
chr5124946555124946653E07023
chr5124946773124946835E070241
chr5124947886124948714E0701354
chr5124993123124993175E07046591
chr5124993656124994057E07047124
chr5124994938124995017E07048406
chr5124995088124995166E07048556
chr5124995174124995261E07048642
chr5124995399124995721E07048867
chr5124910243124910297E071-36235
chr5124910347124912130E071-34402
chr5124912542124912615E071-33917
chr5124912682124912828E071-33704
chr5124917033124917501E071-29031
chr5124918112124918463E071-28069
chr5124918540124918597E071-27935
chr5124918627124918677E071-27855
chr5124918836124919503E071-27029
chr5124919549124919757E071-26775
chr5124931694124932031E071-14501
chr5124933074124933426E071-13106
chr5124990173124990456E07143641
chr5124990951124991138E07144419
chr5124991380124991514E07144848
chr5124993656124994057E07147124
chr5124908808124909098E072-37434
chr5124910243124910297E072-36235
chr5124910347124912130E072-34402
chr5124912542124912615E072-33917
chr5124912682124912828E072-33704
chr5124918836124919503E072-27029
chr5124919549124919757E072-26775
chr5124919789124920158E072-26374
chr5124993123124993175E07246591
chr5124993656124994057E07247124
chr5124908808124909098E073-37434
chr5124910347124912130E073-34402
chr5124912542124912615E073-33917
chr5124912682124912828E073-33704
chr5124919549124919757E073-26775
chr5124919789124920158E073-26374
chr5124910243124910297E074-36235
chr5124910347124912130E074-34402
chr5124912542124912615E074-33917
chr5124912682124912828E074-33704
chr5124917033124917501E074-29031
chr5124917873124918072E074-28460
chr5124918112124918463E074-28069
chr5124918540124918597E074-27935
chr5124918627124918677E074-27855
chr5124918836124919503E074-27029
chr5124919549124919757E074-26775
chr5124919789124920158E074-26374
chr5124933074124933426E074-13106
chr5124990951124991138E07444419
chr5124991380124991514E07444848
chr5124993656124994057E07447124
chr5124910243124910297E081-36235
chr5124910347124912130E081-34402
chr5124918540124918597E081-27935
chr5124918627124918677E081-27855
chr5124918836124919503E081-27029
chr5124993656124994057E08147124
chr5124994938124995017E08148406
chr5124910347124912130E082-34402
chr5124912542124912615E082-33917
chr5124912682124912828E082-33704
chr5124918836124919503E082-27029
chr5124919549124919757E082-26775
chr5124919789124920158E082-26374
chr5124947886124948714E0821354
chr5124993656124994057E08247124