rs6874652

Homo sapiens
C>T
MSH3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0161 (4825/29898,GnomAD)
T=0170 (4960/29118,TOPMED)
T=0178 (891/5008,1000G)
T=0117 (451/3854,ALSPAC)
T=0128 (473/3708,TWINSUK)
chr5:80834893 (GRCh38.p7) (5q14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.80834893C>T
GRCh37.p13 chr 5NC_000005.9:g.80130712C>T
MSH3 RefSeqGeneNG_016607.1:g.185419C>T

Gene: MSH3, mutS homolog 3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MSH3 transcriptNM_002439.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.766T=0.234
1000GenomesAmericanSub694C=0.820T=0.180
1000GenomesEast AsianSub1008C=0.763T=0.237
1000GenomesEuropeSub1006C=0.865T=0.135
1000GenomesGlobalStudy-wide5008C=0.822T=0.178
1000GenomesSouth AsianSub978C=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.883T=0.117
The Genome Aggregation DatabaseAfricanSub8706C=0.786T=0.214
The Genome Aggregation DatabaseAmericanSub832C=0.830T=0.170
The Genome Aggregation DatabaseEast AsianSub1616C=0.740T=0.260
The Genome Aggregation DatabaseEuropeSub18442C=0.871T=0.128
The Genome Aggregation DatabaseGlobalStudy-wide29898C=0.838T=0.161
The Genome Aggregation DatabaseOtherSub302C=0.900T=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.829T=0.170
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.872T=0.128
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
rs68746520.00018alcohol dependence(early age of onset)20201924
rs68746520.00063alcohol dependence20201924

eQTL of rs6874652 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr5:80130712MSH3ENSG00000113318.9C>T2.6526e-3179741Cerebellum
Chr5:80130712MSH3ENSG00000113318.9C>T7.1973e-6179741Cerebellar_Hemisphere

meQTL of rs6874652 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 )
chr58012168680121903E068-8809
chr58012194980122055E068-8657
chr58012168680121903E071-8809
chr58012194980122055E071-8657
chr58013090980131218E071197