rs4328383

Homo sapiens
T>G
MCTP2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0154 (4622/29958,GnomAD)
T==0142 (4147/29118,TOPMED)
T==0125 (625/5008,1000G)
T==0178 (687/3854,ALSPAC)
T==0186 (690/3708,TWINSUK)
chr15:94320608 (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.94320608T>G
GRCh37.p13 chr 15NC_000015.9:g.94863837T>G

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
1000GenomesAfricanSub1322T=0.110G=0.890
1000GenomesAmericanSub694T=0.130G=0.870
1000GenomesEast AsianSub1008T=0.057G=0.943
1000GenomesEuropeSub1006T=0.185G=0.815
1000GenomesGlobalStudy-wide5008T=0.125G=0.875
1000GenomesSouth AsianSub978T=0.150G=0.850
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.178G=0.822
The Genome Aggregation DatabaseAfricanSub8726T=0.111G=0.889
The Genome Aggregation DatabaseAmericanSub834T=0.110G=0.890
The Genome Aggregation DatabaseEast AsianSub1618T=0.067G=0.933
The Genome Aggregation DatabaseEuropeSub18478T=0.185G=0.814
The Genome Aggregation DatabaseGlobalStudy-wide29958T=0.154G=0.845
The Genome Aggregation DatabaseOtherSub302T=0.100G=0.900
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.142G=0.857
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.186G=0.814
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
rs43283830.000729alcohol dependence24277619

eQTL of rs4328383 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 rs4328383 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 )
chr159490945394909569E07045616
chr159491009294910315E07046255
chr159491054394910603E07046706
chr159491073794910827E07046900
chr159491084994911548E07047012
chr159491195494912004E07048117
chr159491208694912255E07048249
chr159491262194912676E07048784
chr159491269194912751E07048854
chr159491285494912935E07049017
chr159491324194913384E07049404
chr159486718394867882E0723346
chr159491009294910315E08146255
chr159491054394910603E08146706
chr159491073794910827E08146900
chr159485716594857385E082-6452
chr159491009294910315E08246255
chr159491054394910603E08246706
chr159491073794910827E08246900
chr159491084994911548E08247012