rs12760274

Homo sapiens
A>G
ST3GAL3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0223 (6682/29948,GnomAD)
G=0196 (5730/29118,TOPMED)
G=0116 (581/5008,1000G)
G=0331 (1274/3854,ALSPAC)
G=0323 (1196/3708,TWINSUK)
chr1:43783673 (GRCh38.p7) (1p34.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.43783673A>G
GRCh37.p13 chr 1NC_000001.10:g.44249344A>G
ST3GAL3 RefSeqGeneNG_028196.1:g.81127A>G

Gene: ST3GAL3, ST3 beta-galactoside alpha-2,3-sialyltransferase 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ST3GAL3 transcript variant 11NM_001270459.1:c.N/AIntron Variant
ST3GAL3 transcript variant 12NM_001270460.1:c.N/AIntron Variant
ST3GAL3 transcript variant 13NM_001270461.1:c.N/AIntron Variant
ST3GAL3 transcript variant 14NM_001270462.1:c.N/AIntron Variant
ST3GAL3 transcript variant 15NM_001270463.1:c.N/AIntron Variant
ST3GAL3 transcript variant 16NM_001270464.1:c.N/AIntron Variant
ST3GAL3 transcript variant 17NM_001270465.1:c.N/AIntron Variant
ST3GAL3 transcript variant 18NM_001270466.1:c.N/AIntron Variant
ST3GAL3 transcript variant 10NM_006279.3:c.N/AIntron Variant
ST3GAL3 transcript variant 1NM_174963.3:c.N/AIntron Variant
ST3GAL3 transcript variant 2NM_174964.2:c.N/AIntron Variant
ST3GAL3 transcript variant 3NM_174965.2:c.N/AIntron Variant
ST3GAL3 transcript variant 4NM_174966.2:c.N/AIntron Variant
ST3GAL3 transcript variant 5NM_174967.2:c.N/AIntron Variant
ST3GAL3 transcript variant 6NM_174968.3:c.N/AIntron Variant
ST3GAL3 transcript variant 7NM_174969.2:c.N/AIntron Variant
ST3GAL3 transcript variant 8NM_174970.2:c.N/AIntron Variant
ST3GAL3 transcript variant 9NM_174971.3:c.N/AIntron Variant
ST3GAL3 transcript variant 19NR_073016.1:n.N/AIntron Variant
ST3GAL3 transcript variant 20NR_073017.1:n.N/AIntron Variant
ST3GAL3 transcript variant 21NR_073018.1:n.N/AIntron Variant
ST3GAL3 transcript variant 22NR_073019.1:n.N/AIntron Variant
ST3GAL3 transcript variant 23NR_073020.1:n.N/AIntron Variant
ST3GAL3 transcript variant 24NR_073021.1:n.N/AIntron Variant
ST3GAL3 transcript variant 25NR_073023.1:n.N/AIntron Variant
ST3GAL3 transcript variant X7XM_006710825.3:c.N/AIntron Variant
ST3GAL3 transcript variant X8XM_006710827.3:c.N/AIntron Variant
ST3GAL3 transcript variant X14XM_006710828.3:c.N/AIntron Variant
ST3GAL3 transcript variant X2XM_011541973.2:c.N/AIntron Variant
ST3GAL3 transcript variant X3XM_011541974.2:c.N/AIntron Variant
ST3GAL3 transcript variant X4XM_011541976.2:c.N/AIntron Variant
ST3GAL3 transcript variant X6XM_011541977.2:c.N/AIntron Variant
ST3GAL3 transcript variant X9XM_011541981.2:c.N/AIntron Variant
ST3GAL3 transcript variant X13XM_011541983.2:c.N/AIntron Variant
ST3GAL3 transcript variant X18XM_011541984.2:c.N/AIntron Variant
ST3GAL3 transcript variant X20XM_011541985.2:c.N/AIntron Variant
ST3GAL3 transcript variant X26XM_011541986.2:c.N/AIntron Variant
ST3GAL3 transcript variant X22XM_011541987.2:c.N/AIntron Variant
ST3GAL3 transcript variant X1XM_017002109.1:c.N/AIntron Variant
ST3GAL3 transcript variant X5XM_017002110.1:c.N/AIntron Variant
ST3GAL3 transcript variant X9XM_017002111.1:c.N/AIntron Variant
ST3GAL3 transcript variant X10XM_017002112.1:c.N/AIntron Variant
ST3GAL3 transcript variant X8XM_017002113.1:c.N/AIntron Variant
ST3GAL3 transcript variant X10XM_017002114.1:c.N/AIntron Variant
ST3GAL3 transcript variant X11XM_017002115.1:c.N/AIntron Variant
ST3GAL3 transcript variant X12XM_017002116.1:c.N/AIntron Variant
ST3GAL3 transcript variant X14XM_017002117.1:c.N/AIntron Variant
ST3GAL3 transcript variant X29XM_017002118.1:c.N/AIntron Variant
ST3GAL3 transcript variant X30XM_017002119.1:c.N/AIntron Variant
ST3GAL3 transcript variant X24XM_017002120.1:c.N/AIntron Variant
ST3GAL3 transcript variant X25XM_017002121.1:c.N/AIntron Variant
ST3GAL3 transcript variant X34XM_017002122.1:c.N/AIntron Variant
ST3GAL3 transcript variant X11XM_011541980.2:c.N/AGenic Upstream Transcript Variant
ST3GAL3 transcript variant X23XM_011541988.2:c.N/AGenic Upstream Transcript Variant
ST3GAL3 transcript variant X19XR_001737368.1:n.N/AIntron Variant
ST3GAL3 transcript variant X35XR_001737369.1:n.N/AIntron Variant
ST3GAL3 transcript variant X15XR_946742.2:n.N/AIntron Variant
ST3GAL3 transcript variant X16XR_946743.2:n.N/AIntron Variant
ST3GAL3 transcript variant X17XR_946744.2:n.N/AIntron Variant
ST3GAL3 transcript variant X26XR_946745.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.968G=0.032
1000GenomesAmericanSub694A=0.800G=0.200
1000GenomesEast AsianSub1008A=0.996G=0.004
1000GenomesEuropeSub1006A=0.682G=0.318
1000GenomesGlobalStudy-wide5008A=0.884G=0.116
1000GenomesSouth AsianSub978A=0.920G=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.669G=0.331
The Genome Aggregation DatabaseAfricanSub8718A=0.934G=0.066
The Genome Aggregation DatabaseAmericanSub836A=0.830G=0.170
The Genome Aggregation DatabaseEast AsianSub1622A=0.998G=0.002
The Genome Aggregation DatabaseEuropeSub18470A=0.681G=0.318
The Genome Aggregation DatabaseGlobalStudy-wide29948A=0.776G=0.223
The Genome Aggregation DatabaseOtherSub302A=0.740G=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.803G=0.196
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.677G=0.323
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs127602748.33E-05alcohol consumption23953852

eQTL of rs12760274 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:44249344ARTNENSG00000117407.12A>G2.6116e-16-149648Cerebellar_Hemisphere

meQTL of rs12760274 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 )
chr14422903844229664E067-19680
chr14424911444249702E0670
chr14429869444298744E06749350
chr14422903844229664E068-19680
chr14426183444262103E06812490
chr14422885444228911E069-20433
chr14422903844229664E069-19680
chr14425229344252991E0692949
chr14423098444231146E070-18198
chr14423135944231409E070-17935
chr14423146144233190E070-16154
chr14426183444262103E07012490
chr14426211844262280E07012774
chr14422903844229664E071-19680
chr14423036044230562E071-18782
chr14423146144233190E071-16154
chr14426183444262103E07112490
chr14425229344252991E0722949
chr14425335744253474E0724013
chr14422903844229664E073-19680
chr14425203844252163E0732694
chr14422903844229664E074-19680
chr14425203844252163E0742694
chr14425229344252991E0742949
chr14422903844229664E081-19680
chr14423004044230080E081-19264
chr14426183444262103E08112490
chr14426211844262280E08112774
chr14427945744279542E08130113
chr14423505644235137E082-14207
chr14426183444262103E08212490
chr14426211844262280E08212774