rs3743307

Homo sapiens
G>A
MCTP2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0258 (7720/29922,GnomAD)
A=0267 (7783/29118,TOPMED)
A=0219 (1096/5008,1000G)
A=0195 (751/3854,ALSPAC)
A=0193 (717/3708,TWINSUK)
chr15:94341751 (GRCh38.p7) (15q26.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.94341751G>A
GRCh37.p13 chr 15NC_000015.9:g.94884980G>A

Gene: MCTP2, multiple C2 domains, transmembrane 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MCTP2 transcript variant 2NM_001159643.1:c.N/AIntron Variant
MCTP2 transcript variant 1NM_018349.3:c.N/AIntron Variant
MCTP2 transcript variant 3NM_001159644.1:c.N/AGenic Upstream Transcript Variant
MCTP2 transcript variant X4XM_005254955.3:c.N/AIntron Variant
MCTP2 transcript variant X5XM_006720603.2:c.N/AIntron Variant
MCTP2 transcript variant X3XM_011521770.1:c.N/AIntron Variant
MCTP2 transcript variant X6XM_011521771.2:c.N/AIntron Variant
MCTP2 transcript variant X7XM_011521772.2:c.N/AIntron Variant
MCTP2 transcript variant X8XM_011521773.2:c.N/AIntron Variant
MCTP2 transcript variant X11XM_011521774.2:c.N/AIntron Variant
MCTP2 transcript variant X1XM_017022403.1:c.N/AIntron Variant
MCTP2 transcript variant X9XM_017022404.1:c.N/AIntron Variant
MCTP2 transcript variant X10XM_017022405.1:c.N/AIntron Variant
MCTP2 transcript variant X15XM_005254960.2:c.N/AGenic Upstream Transcript Variant
MCTP2 transcript variant X14XM_011521775.2:c.N/AGenic Upstream Transcript Variant
MCTP2 transcript variant X12XR_001751349.1:n.N/AIntron Variant
MCTP2 transcript variant X2XR_931865.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.603A=0.397
1000GenomesAmericanSub694G=0.810A=0.190
1000GenomesEast AsianSub1008G=0.962A=0.038
1000GenomesEuropeSub1006G=0.773A=0.227
1000GenomesGlobalStudy-wide5008G=0.781A=0.219
1000GenomesSouth AsianSub978G=0.830A=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.805A=0.195
The Genome Aggregation DatabaseAfricanSub8702G=0.634A=0.366
The Genome Aggregation DatabaseAmericanSub838G=0.820A=0.180
The Genome Aggregation DatabaseEast AsianSub1618G=0.964A=0.036
The Genome Aggregation DatabaseEuropeSub18462G=0.769A=0.230
The Genome Aggregation DatabaseGlobalStudy-wide29922G=0.742A=0.258
The Genome Aggregation DatabaseOtherSub302G=0.800A=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.732A=0.267
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.807A=0.193
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
rs37433070.000428alcohol dependence24277619

eQTL of rs3743307 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 rs3743307 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 )
chr159490945394909569E07024473
chr159491009294910315E07025112
chr159491054394910603E07025563
chr159491073794910827E07025757
chr159491084994911548E07025869
chr159491195494912004E07026974
chr159491208694912255E07027106
chr159491262194912676E07027641
chr159491269194912751E07027711
chr159491285494912935E07027874
chr159491324194913384E07028261
chr159491345794914101E07028477
chr159491425194914441E07029271
chr159491472494914774E07029744
chr159491491094914951E07029930
chr159486718394867882E072-17098
chr159491009294910315E08125112
chr159491054394910603E08125563
chr159491073794910827E08125757
chr159491345794914101E08128477
chr159485716594857385E082-27595
chr159491009294910315E08225112
chr159491054394910603E08225563
chr159491073794910827E08225757
chr159491084994911548E08225869