rs115960994

Homo sapiens
C>T
GLT8D1 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0001 (221/121096,ExAC)
T=0005 (172/29966,GnomAD)
T=0008 (252/29118,TOPMED)
C==0006 (90/13006,GO-ESP)
T=0006 (32/5008,1000G)
chr3:52697812 (GRCh38.p7) (3p21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
99 Enhancers around
49 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.52697812C>T
GRCh37.p13 chr 3NC_000003.11:g.52731828C>T

Gene: GLT8D1, glycosyltransferase 8 domain containing 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GLT8D1 transcript variant 1NM_152932.2:c.238G>AA [GCC]> T [ACC]Coding Sequence Variant
glycosyltransferase 8 domain-containing protein 1NP_690909.1:p.Ala...NP_690909.1:p.Ala80ThrA [Ala]> T [Thr]Missense Variant
GLT8D1 transcript variant 3NM_001010983.2:c....NM_001010983.2:c.238G>AA [GCC]> T [ACC]Coding Sequence Variant
glycosyltransferase 8 domain-containing protein 1NP_001010983.1:p....NP_001010983.1:p.Ala80ThrA [Ala]> T [Thr]Missense Variant
GLT8D1 transcript variant 4NM_001278280.1:c....NM_001278280.1:c.238G>AA [GCC]> T [ACC]Coding Sequence Variant
glycosyltransferase 8 domain-containing protein 1NP_001265209.1:p....NP_001265209.1:p.Ala80ThrA [Ala]> T [Thr]Missense Variant
GLT8D1 transcript variant 2NM_018446.3:c.238G>AA [GCC]> T [ACC]Coding Sequence Variant
glycosyltransferase 8 domain-containing protein 1NP_060916.1:p.Ala...NP_060916.1:p.Ala80ThrA [Ala]> T [Thr]Missense Variant
GLT8D1 transcript variant 5NM_001278281.1:c....NM_001278281.1:c.238G>AA [GCC]> T [ACC]Coding Sequence Variant
glycosyltransferase 8 domain-containing protein 1NP_001265210.1:p....NP_001265210.1:p.Ala80ThrA [Ala]> T [Thr]Missense Variant
GLT8D1 transcript variant X1XM_017006857.1:c....XM_017006857.1:c.238G>AA [GCC]> T [ACC]Coding Sequence Variant
glycosyltransferase 8 domain-containing protein 1 isoform X1XP_016862346.1:p....XP_016862346.1:p.Ala80ThrA [Ala]> T [Thr]Missense Variant
GLT8D1 transcript variant X2XM_017006858.1:c....XM_017006858.1:c.238G>AA [GCC]> T [ACC]Coding Sequence Variant
glycosyltransferase 8 domain-containing protein 1 isoform X1XP_016862347.1:p....XP_016862347.1:p.Ala80ThrA [Ala]> T [Thr]Missense Variant
GLT8D1 transcript variant X3XM_017006859.1:c....XM_017006859.1:c.238G>AA [GCC]> T [ACC]Coding Sequence Variant
glycosyltransferase 8 domain-containing protein 1 isoform X1XP_016862348.1:p....XP_016862348.1:p.Ala80ThrA [Ala]> T [Thr]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.977T=0.023
1000GenomesAmericanSub694C=1.000T=0.000
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=1.000T=0.000
1000GenomesGlobalStudy-wide5008C=0.994T=0.006
1000GenomesSouth AsianSub978C=1.000T=0.000
The Exome Aggregation ConsortiumAmericanSub21940C=0.990T=0.009
The Exome Aggregation ConsortiumAsianSub25160C=1.000T=0.000
The Exome Aggregation ConsortiumEuropeSub73092C=0.999T=0.000
The Exome Aggregation ConsortiumGlobalStudy-wide121096C=0.998T=0.001
The Exome Aggregation ConsortiumOtherSub904C=1.000T=0.000
The Genome Aggregation DatabaseAfricanSub8724C=0.980T=0.020
The Genome Aggregation DatabaseAmericanSub836C=1.000T=0.000
The Genome Aggregation DatabaseEast AsianSub1620C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18484C=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29966C=0.994T=0.005
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.991T=0.008
PMID Title Author Journal
23555315Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.Haiman CAPLoS Genet

P-Value

SNP ID p-value Traits Study
rs1159609941.01E-06alcohol consumption23555315

eQTL of rs115960994 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 rs115960994 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 )
chr35270462252705587E067-26241
chr35271325652713359E067-18469
chr35271336152713909E067-17919
chr35271396752714077E067-17751
chr35271575152715871E067-15957
chr35271597352716365E067-15463
chr35271804852718157E067-13671
chr35271825652718342E067-13486
chr35273774952737857E0675921
chr35273812152738220E0676293
chr35273827452738335E0676446
chr35273837552738472E0676547
chr35271575152715871E068-15957
chr35271597352716365E068-15463
chr35271642052716601E068-15227
chr35271671952716874E068-14954
chr35271773052717963E068-13865
chr35271804852718157E068-13671
chr35271825652718342E068-13486
chr35271325652713359E069-18469
chr35271336152713909E069-17919
chr35271396752714077E069-17751
chr35271575152715871E069-15957
chr35271597352716365E069-15463
chr35271642052716601E069-15227
chr35271671952716874E069-14954
chr35271804852718157E069-13671
chr35271825652718342E069-13486
chr35273774952737857E0695921
chr35273812152738220E0696293
chr35273827452738335E0696446
chr35273837552738472E0696547
chr35271575152715871E070-15957
chr35271597352716365E070-15463
chr35271738552717471E070-14357
chr35271825652718342E070-13486
chr35272230952722359E070-9469
chr35273774952737857E0705921
chr35273812152738220E0706293
chr35273827452738335E0706446
chr35273837552738472E0706547
chr35271325652713359E071-18469
chr35271336152713909E071-17919
chr35271396752714077E071-17751
chr35271575152715871E071-15957
chr35271597352716365E071-15463
chr35271642052716601E071-15227
chr35271738552717471E071-14357
chr35271773052717963E071-13865
chr35271804852718157E071-13671
chr35271825652718342E071-13486
chr35273812152738220E0716293
chr35273827452738335E0716446
chr35273837552738472E0716547
chr35271325652713359E072-18469
chr35271336152713909E072-17919
chr35271575152715871E072-15957
chr35271597352716365E072-15463
chr35271642052716601E072-15227
chr35271671952716874E072-14954
chr35271804852718157E072-13671
chr35271825652718342E072-13486
chr35273774952737857E0725921
chr35273812152738220E0726293
chr35273827452738335E0726446
chr35273837552738472E0726547
chr35271325652713359E073-18469
chr35271336152713909E073-17919
chr35271396752714077E073-17751
chr35271804852718157E073-13671
chr35271825652718342E073-13486
chr35273710352737153E0735275
chr35273774952737857E0735921
chr35273812152738220E0736293
chr35273827452738335E0736446
chr35273837552738472E0736547
chr35271325652713359E074-18469
chr35271336152713909E074-17919
chr35271396752714077E074-17751
chr35271575152715871E074-15957
chr35271597352716365E074-15463
chr35271642052716601E074-15227
chr35271671952716874E074-14954
chr35271804852718157E074-13671
chr35271825652718342E074-13486
chr35273837552738472E0746547
chr35271642052716601E081-15227
chr35271671952716874E081-14954
chr35271738552717471E081-14357
chr35271773052717963E081-13865
chr35271825652718342E081-13486
chr35273774952737857E0815921
chr35273812152738220E0816293
chr35273827452738335E0816446
chr35273837552738472E0816547
chr35271773052717963E082-13865
chr35271804852718157E082-13671
chr35273774952737857E0825921
chr35273812152738220E0826293










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr35271911052719150E067-12678
chr35271920152720755E067-11073
chr35273928452740628E0677456
chr35274070752740818E0678879
chr35274088452740954E0679056
chr35271911052719150E068-12678
chr35271920152720755E068-11073
chr35273928452740628E0687456
chr35274070752740818E0688879
chr35274088452740954E0689056
chr35271911052719150E069-12678
chr35271920152720755E069-11073
chr35273928452740628E0697456
chr35274070752740818E0698879
chr35274088452740954E0699056
chr35271911052719150E070-12678
chr35271920152720755E070-11073
chr35273928452740628E0707456
chr35274070752740818E0708879
chr35274088452740954E0709056
chr35271911052719150E071-12678
chr35271920152720755E071-11073
chr35273928452740628E0717456
chr35274070752740818E0718879
chr35274088452740954E0719056
chr35271911052719150E072-12678
chr35271920152720755E072-11073
chr35273928452740628E0727456
chr35274070752740818E0728879
chr35274088452740954E0729056
chr35271911052719150E073-12678
chr35271920152720755E073-11073
chr35273928452740628E0737456
chr35274070752740818E0738879
chr35274088452740954E0739056
chr35271911052719150E074-12678
chr35271920152720755E074-11073
chr35273928452740628E0747456
chr35274070752740818E0748879
chr35274088452740954E0749056
chr35271911052719150E081-12678
chr35273928452740628E0817456
chr35274070752740818E0818879
chr35274088452740954E0819056
chr35271911052719150E082-12678
chr35271920152720755E082-11073
chr35273928452740628E0827456
chr35274070752740818E0828879
chr35274088452740954E0829056