rs2075033

Homo sapiens
G>A
B4GALNT3 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0094 (11168/118528,ExAC)
A=0110 (3292/29912,GnomAD)
A=0104 (3033/29118,TOPMED)
G==0103 (1341/13006,GO-ESP)
A=0114 (573/5008,1000G)
A=0066 (255/3854,ALSPAC)
A=0072 (266/3708,TWINSUK)
chr12:535171 (GRCh38.p7) (12p13.33)
AD
GWASdb2
1   publication(s)
See rs on genome
70 Enhancers around
5 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.535171G>A
GRCh37.p13 chr 12NC_000012.11:g.644337G>A

Gene: B4GALNT3, beta-1,4-N-acetyl-galactosaminyltransferase 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
B4GALNT3 transcriptNM_173593.3:c.175G>AG [GGC]> S [AGC]Coding Sequence Variant
beta-1,4-N-acetylgalactosaminyltransferase 3NP_775864.3:p.Gly...NP_775864.3:p.Gly59SerG [Gly]> S [Ser]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.831A=0.169
1000GenomesAmericanSub694G=0.910A=0.090
1000GenomesEast AsianSub1008G=0.861A=0.139
1000GenomesEuropeSub1006G=0.920A=0.080
1000GenomesGlobalStudy-wide5008G=0.886A=0.114
1000GenomesSouth AsianSub978G=0.930A=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.934A=0.066
The Exome Aggregation ConsortiumAmericanSub21462G=0.890A=0.109
The Exome Aggregation ConsortiumAsianSub24866G=0.890A=0.109
The Exome Aggregation ConsortiumEuropeSub71320G=0.915A=0.084
The Exome Aggregation ConsortiumGlobalStudy-wide118528G=0.905A=0.094
The Exome Aggregation ConsortiumOtherSub880G=0.910A=0.090
The Genome Aggregation DatabaseAfricanSub8706G=0.846A=0.154
The Genome Aggregation DatabaseAmericanSub838G=0.940A=0.060
The Genome Aggregation DatabaseEast AsianSub1616G=0.855A=0.145
The Genome Aggregation DatabaseEuropeSub18450G=0.911A=0.088
The Genome Aggregation DatabaseGlobalStudy-wide29912G=0.889A=0.110
The Genome Aggregation DatabaseOtherSub302G=0.910A=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.895A=0.104
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.928A=0.072
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
rs20750330.000907alcohol consumption (maxi-drinks)24277619

eQTL of rs2075033 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 rs2075033 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 )
chr12650416650470E0676079
chr12650539650638E0676202
chr12650657650698E0676320
chr12650728651790E0676391
chr12655416656669E06711079
chr12677997678415E06733660
chr12683769686133E06739432
chr12687426687611E06743089
chr12687708687870E06743371
chr12687950688577E06743613
chr12688704688908E06744367
chr12618623620157E068-24180
chr12628318628410E068-15927
chr12683769686133E06839432
chr12687426687611E06843089
chr12687708687870E06843371
chr12687950688577E06843613
chr12688704688908E06844367
chr12618623620157E069-24180
chr12677997678415E06933660
chr12683769686133E06939432
chr12686199686464E06941862
chr12687426687611E06943089
chr12687708687870E06943371
chr12687950688577E06943613
chr12688704688908E06944367
chr12618623620157E070-24180
chr12655416656669E07011079
chr12659867660252E07015530
chr12687708687870E07043371
chr12687950688577E07043613
chr12650416650470E0716079
chr12650539650638E0716202
chr12650657650698E0716320
chr12650728651790E0716391
chr12656952657275E07112615
chr12669900670130E07125563
chr12670267670623E07125930
chr12677460677985E07133123
chr12677997678415E07133660
chr12681721681961E07137384
chr12683769686133E07139432
chr12686199686464E07141862
chr12687426687611E07143089
chr12687708687870E07143371
chr12687950688577E07143613
chr12688704688908E07144367
chr12688944689051E07144607
chr12689094689165E07144757
chr12618623620157E072-24180
chr12650728651790E0726391
chr12656952657275E07212615
chr12677997678415E07233660
chr12683769686133E07239432
chr12687426687611E07243089
chr12687708687870E07243371
chr12687950688577E07243613
chr12688704688908E07244367
chr12688944689051E07244607
chr12655416656669E07311079
chr12618623620157E074-24180
chr12677997678415E07433660
chr12683769686133E07439432
chr12686199686464E07441862
chr12687426687611E07443089
chr12687708687870E07443371
chr12687950688577E07443613
chr12688704688908E07444367
chr12655416656669E08111079
chr12687950688577E08243613










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12656671656951E06912334
chr12656671656951E07112334
chr12656671656951E07212334
chr12656671656951E07312334
chr12656671656951E08212334