rs4749301

Homo sapiens
T>C
MPP7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0307 (9198/29960,GnomAD)
C=0302 (8808/29118,TOPMED)
C=0486 (2432/5008,1000G)
C=0194 (748/3854,ALSPAC)
C=0201 (745/3708,TWINSUK)
chr10:28084715 (GRCh38.p7) (10p12.1)
AD
GWASdb2
2   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.28084715T>C
GRCh37.p13 chr 10NC_000010.10:g.28373644T>C

Gene: MPP7, membrane palmitoylated protein 7(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MPP7 transcript variant 1NM_001318170.1:c.N/AIntron Variant
MPP7 transcript variant 2NM_173496.4:c.N/AIntron Variant
MPP7 transcript variant 3NR_134517.1:n.N/AIntron Variant
MPP7 transcript variant 4NR_134518.1:n.N/AIntron Variant
MPP7 transcript variant X2XM_011519337.2:c.N/AIntron Variant
MPP7 transcript variant X4XM_011519338.2:c.N/AIntron Variant
MPP7 transcript variant X1XM_017015741.1:c.N/AIntron Variant
MPP7 transcript variant X3XM_017015742.1:c.N/AIntron Variant
MPP7 transcript variant X6XM_005252369.3:c.N/AGenic Downstream Transcript Variant
MPP7 transcript variant X5XM_017015743.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.657C=0.343
1000GenomesAmericanSub694T=0.540C=0.460
1000GenomesEast AsianSub1008T=0.119C=0.881
1000GenomesEuropeSub1006T=0.799C=0.201
1000GenomesGlobalStudy-wide5008T=0.514C=0.486
1000GenomesSouth AsianSub978T=0.420C=0.580
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.806C=0.194
The Genome Aggregation DatabaseAfricanSub8720T=0.641C=0.359
The Genome Aggregation DatabaseAmericanSub836T=0.540C=0.460
The Genome Aggregation DatabaseEast AsianSub1618T=0.113C=0.887
The Genome Aggregation DatabaseEuropeSub18484T=0.773C=0.227
The Genome Aggregation DatabaseGlobalStudy-wide29960T=0.693C=0.307
The Genome Aggregation DatabaseOtherSub302T=0.830C=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.697C=0.302
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.799C=0.201
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
27001270Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma.Vishal MBMC Med Genomics

P-Value

SNP ID p-value Traits Study
rs47493010.00058alcohol dependence20201924

eQTL of rs4749301 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 rs4749301 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 )
chr102840220128402303E07028557
chr102840266428402756E07029020
chr102840287728402917E07029233
chr102840531028405392E07031666