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rs587779075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs587779075(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47429830
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779075
dbSNP (classic)rs587779075
ClinGenrs587779075
ebirs587779075
HLIrs587779075
Exacrs587779075
Gnomadrs587779075
Varsomers587779075
LitVarrs587779075
Maprs587779075
PheGenIrs587779075
Biobankrs587779075
1000 genomesrs587779075
hgdprs587779075
ensemblrs587779075
geneviewrs587779075
scholarrs587779075
googlers587779075
pharmgkbrs587779075
gwascentralrs587779075
openSNPrs587779075
23andMers587779075
SNPshotrs587779075
SNPdbers587779075
MSV3drs587779075
GWAS Ctlgrs587779075
Max Magnitude6
ClinVar
Risk rs587779075(T;T)
Alt rs587779075(T;T)
Reference Rs587779075(C;C)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome not provided Lynch syndrome I
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome not provided Lynch syndrome I
Reversed 0
HGVS NC_000002.11:g.47656969C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076052.3, RCV000115494.7, RCV000202008.2, RCV000409481.1,