rs1048048

Homo sapiens
T>C
MCTP2 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0268 (8036/29930,GnomAD)
T==0283 (8248/29118,TOPMED)
T==0289 (1445/5008,1000G)
T==0302 (1162/3854,ALSPAC)
T==0322 (1193/3708,TWINSUK)
chr15:94481531 (GRCh38.p7) (15q26.2)
AD
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.94481531T>C
GRCh37.p13 chr 15NC_000015.9:g.95024760T>C

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

Molecule type Change Amino acid[Codon] SO Term
MCTP2 transcript variant 1NM_018349.3:c.N/A3 Prime UTR Variant
MCTP2 transcript variant 2NM_001159643.1:c.N/A3 Prime UTR Variant
MCTP2 transcript variant 3NM_001159644.1:c.N/AGenic Downstream Transcript Variant
MCTP2 transcript variant X3XM_011521770.1:c.N/A3 Prime UTR Variant
MCTP2 transcript variant X5XM_006720603.2:c.N/A3 Prime UTR Variant
MCTP2 transcript variant X1XM_017022403.1:c.N/A3 Prime UTR Variant
MCTP2 transcript variant X4XM_005254955.3:c.N/A3 Prime UTR Variant
MCTP2 transcript variant X6XM_011521771.2:c.N/A3 Prime UTR Variant
MCTP2 transcript variant X7XM_011521772.2:c.N/A3 Prime UTR Variant
MCTP2 transcript variant X9XM_017022404.1:c.N/A3 Prime UTR Variant
MCTP2 transcript variant X10XM_017022405.1:c.N/A3 Prime UTR Variant
MCTP2 transcript variant X14XM_011521775.2:c.N/A3 Prime UTR Variant
MCTP2 transcript variant X15XM_005254960.2:c.N/A3 Prime UTR Variant
MCTP2 transcript variant X8XM_011521773.2:c.N/AGenic Downstream Transcript Variant
MCTP2 transcript variant X11XM_011521774.2:c.N/AGenic Downstream Transcript Variant
MCTP2 transcript variant X12XR_001751349.1:n.N/AGenic Downstream Transcript Variant
MCTP2 transcript variant X2XR_931865.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.233C=0.767
1000GenomesAmericanSub694T=0.310C=0.690
1000GenomesEast AsianSub1008T=0.295C=0.705
1000GenomesEuropeSub1006T=0.336C=0.664
1000GenomesGlobalStudy-wide5008T=0.289C=0.711
1000GenomesSouth AsianSub978T=0.290C=0.710
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.302C=0.698
The Genome Aggregation DatabaseAfricanSub8716T=0.221C=0.779
The Genome Aggregation DatabaseAmericanSub838T=0.340C=0.660
The Genome Aggregation DatabaseEast AsianSub1614T=0.294C=0.706
The Genome Aggregation DatabaseEuropeSub18460T=0.282C=0.717
The Genome Aggregation DatabaseGlobalStudy-wide29930T=0.268C=0.731
The Genome Aggregation DatabaseOtherSub302T=0.430C=0.570
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.283C=0.716
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.322C=0.678
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs10480480.000266alcohol dependence20201924

eQTL of rs1048048 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 rs1048048 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 )
chr159498652294986758E070-38002
chr159498681994986869E070-37891
chr159498687894986968E070-37792
chr159499355994993689E081-31071
chr159499398194994739E081-30021
chr159498575594986169E082-38591
chr159498642694986476E082-38284
chr159498652294986758E082-38002
chr159498681994986869E082-37891
chr159498687894986968E082-37792