rs7617733

Homo sapiens
G>A
ALDH1L1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0233 (6986/29902,GnomAD)
A=0257 (7486/29118,TOPMED)
A=0254 (1271/5008,1000G)
A=0171 (660/3854,ALSPAC)
A=0179 (662/3708,TWINSUK)
chr3:126171901 (GRCh38.p7) (3q21.3)
AD
GWASdb2
2   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.126171901G>A
GRCh37.p13 chr 3NC_000003.11:g.125890744G>A
ALDH1L1 RefSeqGeneNG_012260.1:g.13742C>T

Gene: ALDH1L1, aldehyde dehydrogenase 1 family member L1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ALDH1L1 transcript variant 1NM_001270364.1:c.N/AIntron Variant
ALDH1L1 transcript variant 3NM_001270365.1:c.N/AIntron Variant
ALDH1L1 transcript variant 2NM_012190.3:c.N/AIntron Variant
ALDH1L1 transcript variant 4NR_072979.1:n.N/AIntron Variant
ALDH1L1 transcript variant X1XM_006713481.2:c.N/AIntron Variant
ALDH1L1 transcript variant X2XM_011512355.1:c.N/AIntron Variant
ALDH1L1 transcript variant X3XM_017005613.1:c.N/AIntron Variant
ALDH1L1 transcript variant X4XM_017005614.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.566A=0.434
1000GenomesAmericanSub694G=0.730A=0.270
1000GenomesEast AsianSub1008G=0.775A=0.225
1000GenomesEuropeSub1006G=0.841A=0.159
1000GenomesGlobalStudy-wide5008G=0.746A=0.254
1000GenomesSouth AsianSub978G=0.870A=0.130
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.829A=0.171
The Genome Aggregation DatabaseAfricanSub8674G=0.626A=0.374
The Genome Aggregation DatabaseAmericanSub838G=0.750A=0.250
The Genome Aggregation DatabaseEast AsianSub1614G=0.758A=0.242
The Genome Aggregation DatabaseEuropeSub18474G=0.831A=0.168
The Genome Aggregation DatabaseGlobalStudy-wide29902G=0.766A=0.233
The Genome Aggregation DatabaseOtherSub302G=0.860A=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.742A=0.257
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.821A=0.179
PMID Title Author Journal
19064578No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.Stevens VLCancer Epidemiol Biomarkers Prev
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
rs76177330.000347alcohol consumption (maxi-drinks)24277619

eQTL of rs7617733 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 rs7617733 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 )
chr3125933092125933152E06742348
chr3125851501125851551E068-39193
chr3125925524125925609E06834780
chr3125927123125927349E06836379
chr3125927518125927758E06836774
chr3125921236125921433E06930492
chr3125927123125927349E07036379
chr3125927518125927758E07036774
chr3125927518125927758E07136774
chr3125933092125933152E07142348
chr3125853067125853487E072-37257
chr3125921236125921433E07230492
chr3125878106125878289E073-12455
chr3125921236125921433E07330492
chr3125927123125927349E07336379
chr3125927518125927758E07336774
chr3125928006125928087E07337262
chr3125933092125933152E07342348
chr3125903304125903409E07412560
chr3125921236125921433E07430492
chr3125927123125927349E07436379
chr3125927518125927758E07436774
chr3125928006125928087E07437262
chr3125933092125933152E07442348
chr3125853067125853487E081-37257
chr3125921236125921433E08130492
chr3125922225125922431E08131481
chr3125924487125924587E08133743
chr3125925081125925414E08134337
chr3125933092125933152E08142348
chr3125921236125921433E08230492










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3125898194125898244E0677450
chr3125898362125899209E0677618
chr3125899244125900199E0678500
chr3125931437125932766E06740693
chr3125897759125898050E0687015
chr3125898194125898244E0687450
chr3125898362125899209E0687618
chr3125899244125900199E0688500
chr3125931437125932766E06840693
chr3125897759125898050E0697015
chr3125898194125898244E0697450
chr3125898362125899209E0697618
chr3125899244125900199E0698500
chr3125931437125932766E06940693
chr3125931437125932766E07040693
chr3125897759125898050E0717015
chr3125898194125898244E0717450
chr3125898362125899209E0717618
chr3125899244125900199E0718500
chr3125931437125932766E07140693
chr3125898194125898244E0727450
chr3125898362125899209E0727618
chr3125899244125900199E0728500
chr3125931437125932766E07240693
chr3125897759125898050E0737015
chr3125898194125898244E0737450
chr3125898362125899209E0737618
chr3125899244125900199E0738500
chr3125931437125932766E07340693
chr3125897759125898050E0747015
chr3125898194125898244E0747450
chr3125898362125899209E0747618
chr3125899244125900199E0748500
chr3125931437125932766E07440693
chr3125899244125900199E0828500
chr3125931437125932766E08240693