rs1109501

Homo sapiens
G>A
MUC7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0215 (6439/29900,GnomAD)
A=0211 (6144/29118,TOPMED)
A=0248 (1242/5008,1000G)
A=0249 (959/3854,ALSPAC)
A=0269 (996/3708,TWINSUK)
chr4:70463773 (GRCh38.p7) (4q13.3)
AD
GWASdb2 | GWASCatalog
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.70463773G>A
GRCh37.p13 chr 4NC_000004.11:g.71329490G>A
MUC7 RefSeqGeneNG_012348.1:g.38282G>A

Gene: MUC7, mucin 7, secreted(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MUC7 transcript variant 1NM_001145006.1:c.N/AIntron Variant
MUC7 transcript variant 2NM_001145007.1:c.N/AGenic Upstream Transcript Variant
MUC7 transcript variant 3NM_152291.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.937A=0.063
1000GenomesAmericanSub694G=0.740A=0.260
1000GenomesEast AsianSub1008G=0.611A=0.389
1000GenomesEuropeSub1006G=0.713A=0.287
1000GenomesGlobalStudy-wide5008G=0.752A=0.248
1000GenomesSouth AsianSub978G=0.700A=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.751A=0.249
The Genome Aggregation DatabaseAfricanSub8704G=0.905A=0.095
The Genome Aggregation DatabaseAmericanSub838G=0.700A=0.300
The Genome Aggregation DatabaseEast AsianSub1590G=0.606A=0.394
The Genome Aggregation DatabaseEuropeSub18466G=0.751A=0.249
The Genome Aggregation DatabaseGlobalStudy-wide29900G=0.784A=0.215
The Genome Aggregation DatabaseOtherSub302G=0.550A=0.450
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.789A=0.211
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.731A=0.269
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs11095010.000005alcoholism (heaviness of drinking)21529783
rs11095015.00E-06alcohol dependence21529783

eQTL of rs1109501 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 rs1109501 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.