rs2936512

Homo sapiens
T>C
AGPAT5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0243 (7281/29930,GnomAD)
T==0187 (5451/29118,TOPMED)
T==0235 (1177/5008,1000G)
T==0322 (1242/3854,ALSPAC)
T==0339 (1256/3708,TWINSUK)
chr8:6741484 (GRCh38.p7) (8p23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
154 Enhancers around
19 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.6741484T>C
GRCh37.p13 chr 8NC_000008.10:g.6599005T>C

Gene: AGPAT5, 1-acylglycerol-3-phosphate O-acyltransferase 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AGPAT5 transcriptNM_018361.3:c.N/AIntron Variant
AGPAT5 transcript variant X1XM_011534751.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.019C=0.981
1000GenomesAmericanSub694T=0.230C=0.770
1000GenomesEast AsianSub1008T=0.263C=0.737
1000GenomesEuropeSub1006T=0.311C=0.689
1000GenomesGlobalStudy-wide5008T=0.235C=0.765
1000GenomesSouth AsianSub978T=0.420C=0.580
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.322C=0.678
The Genome Aggregation DatabaseAfricanSub8726T=0.063C=0.937
The Genome Aggregation DatabaseAmericanSub838T=0.180C=0.820
The Genome Aggregation DatabaseEast AsianSub1614T=0.241C=0.759
The Genome Aggregation DatabaseEuropeSub18450T=0.330C=0.669
The Genome Aggregation DatabaseGlobalStudy-wide29930T=0.243C=0.756
The Genome Aggregation DatabaseOtherSub302T=0.340C=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.187C=0.812
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.339C=0.661
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
rs29365120.000321alcohol consumption (maxi-drinks)24277619

eQTL of rs2936512 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 rs2936512 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 )
chr865642456564472E067-34533
chr865645026564793E067-34212
chr865911596591295E067-7710
chr866021546602208E0673149
chr866023376602502E0673332
chr866025816602631E0673576
chr866307976631081E06731792
chr866311196631474E06732114
chr866320616632111E06733056
chr866321546632194E06733149
chr866321956632300E06733190
chr866325886632650E06733583
chr866326786632807E06733673
chr865579126557962E068-41043
chr865642456564472E068-34533
chr865645026564793E068-34212
chr865711086571278E068-27727
chr865713346571796E068-27209
chr865900786590258E068-8747
chr865902836590344E068-8661
chr865903556590577E068-8428
chr865906936591135E068-7870
chr865911596591295E068-7710
chr865939536594929E068-4076
chr866018176601934E0682812
chr866032616603388E0684256
chr866332216633413E06834216
chr866334806633811E06834475
chr866338776633957E06834872
chr866451976645852E06846192
chr865642456564472E069-34533
chr865645026564793E069-34212
chr865754266576318E069-22687
chr865900786590258E069-8747
chr865902836590344E069-8661
chr865903556590577E069-8428
chr865906936591135E069-7870
chr865911596591295E069-7710
chr866021546602208E0693149
chr866023376602502E0693332
chr866325886632650E06933583
chr866326786632807E06933673
chr866330056633106E06934000
chr866332216633413E06934216
chr866334806633811E06934475
chr866451976645852E06946192
chr866459586646009E06946953
chr865641776564240E070-34765
chr865642456564472E070-34533
chr865645026564793E070-34212
chr865903556590577E070-8428
chr865906936591135E070-7870
chr866073716607949E0708366
chr866451976645852E07046192
chr865836616583711E071-15294
chr865839706584045E071-14960
chr865841936584377E071-14628
chr865892916589699E071-9306
chr865898036589925E071-9080
chr865906936591135E071-7870
chr865911596591295E071-7710
chr866018176601934E0712812
chr866021546602208E0713149
chr866023376602502E0713332
chr866032616603388E0714256
chr866311196631474E07132114
chr866314766631855E07132471
chr866318566632013E07132851
chr866320616632111E07133056
chr866321546632194E07133149
chr866321956632300E07133190
chr866330056633106E07134000
chr866332216633413E07134216
chr866334806633811E07134475
chr866367466637848E07137741
chr866451976645852E07146192
chr865638916564087E072-34918
chr865641776564240E072-34765
chr865642456564472E072-34533
chr865645026564793E072-34212
chr865867106587283E072-11722
chr865873576587558E072-11447
chr865903556590577E072-8428
chr866073716607949E0728366
chr866210056621302E07222000
chr866314766631855E07232471
chr866330056633106E07234000
chr866332216633413E07234216
chr866334806633811E07234475
chr866451976645852E07246192
chr865638916564087E073-34918
chr865641776564240E073-34765
chr865642456564472E073-34533
chr865645026564793E073-34212
chr865906936591135E073-7870
chr865911596591295E073-7710
chr866018176601934E0732812
chr866021546602208E0733149
chr866023376602502E0733332
chr866073716607949E0738366
chr866318566632013E07332851
chr866320616632111E07333056
chr866321546632194E07333149
chr866321956632300E07333190
chr866451976645852E07346192
chr865642456564472E074-34533
chr865645026564793E074-34212
chr865892916589699E074-9306
chr865898036589925E074-9080
chr865900786590258E074-8747
chr865902836590344E074-8661
chr865903556590577E074-8428
chr865906936591135E074-7870
chr865911596591295E074-7710
chr865939536594929E074-4076
chr866006406600712E0741635
chr866007356600819E0741730
chr866008276600923E0741822
chr866018176601934E0742812
chr866021546602208E0743149
chr866032616603388E0744256
chr866045036604570E0745498
chr866046396604689E0745634
chr866047666604926E0745761
chr866314766631855E07432471
chr866318566632013E07432851
chr866320616632111E07433056
chr866321546632194E07433149
chr866321956632300E07433190
chr866325886632650E07433583
chr866326786632807E07433673
chr866332216633413E07434216
chr866334806633811E07434475
chr866338776633957E07434872
chr865641776564240E081-34765
chr865642456564472E081-34533
chr865645026564793E081-34212
chr866442316644328E08145226
chr866443846644424E08145379
chr866444966644563E08145491
chr866449356644985E08145930
chr866451976645852E08146192
chr866459586646009E08146953
chr865641776564240E082-34765
chr865642456564472E082-34533
chr865645026564793E082-34212
chr865906936591135E082-7870
chr866318566632013E08232851
chr866320616632111E08233056
chr866321546632194E08233149
chr866321956632300E08233190
chr866442316644328E08245226
chr866443846644424E08245379
chr866444966644563E08245491










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr865649496567149E067-31856
chr865671506567229E067-31776
chr865649496567149E068-31856
chr865671506567229E068-31776
chr865649496567149E069-31856
chr865671506567229E069-31776
chr865649496567149E070-31856
chr865671506567229E070-31776
chr865649496567149E071-31856
chr865671506567229E071-31776
chr865649496567149E072-31856
chr865671506567229E072-31776
chr865649496567149E073-31856
chr865671506567229E073-31776
chr865649496567149E074-31856
chr865649496567149E081-31856
chr865671506567229E081-31776
chr865649496567149E082-31856
chr865671506567229E082-31776