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rs1805323

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1805323(A;A)
Make rs1805323(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position5987311
GenePMS2
is asnp
is mentioned by
dbSNPrs1805323
ebirs1805323
HLIrs1805323
Exacrs1805323
Varsomers1805323
Maprs1805323
PheGenIrs1805323
hapmaprs1805323
1000 genomesrs1805323
hgdprs1805323
ensemblrs1805323
gopubmedrs1805323
geneviewrs1805323
scholarrs1805323
googlers1805323
pharmgkbrs1805323
gwascentralrs1805323
openSNPrs1805323
23andMers1805323
23andMe allrs1805323
SNP Nexus

SNPshotrs1805323
SNPdbers1805323
MSV3drs1805323
GWAS Ctlgrs1805323
Max Magnitude0
modifies the age of onset of poly-glutamine (aka Poly-Q) diseases, such as Huntington disease and multiple spinocerebellar ataxia, according to 10.1002/ana.24656


ClinVar
Risk rs1805323(A,T;A,T)
Alt rs1805323(A,T;A,T)
Reference rs1805323(C;C)
Significance Non-pathogenic
Disease Lynch syndrome not provided not specified Hereditary cancer-predisposing syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome not provided not specified Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000007.13:g.6026942G>A; NC_000007.13:g.6026942G>T
CLNSRC Inc. International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000227437.1, RCV000034616.1, RCV000076810.2, RCV000079104.5, RCV000130906.2,