Have questions? Visit https://www.reddit.com/r/SNPedia

rs587779185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TCTG) 6 Lynch syndrome, pathogenic mutation
(CTGT;CTGT) 0 common in clinvar
(TCTG;TCTG) 0 common in clinvar


Make rs587779185(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47414287
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779185
dbSNP (classic)rs587779185
ClinGenrs587779185
ebirs587779185
HLIrs587779185
Exacrs587779185
Gnomadrs587779185
Varsomers587779185
LitVarrs587779185
Maprs587779185
PheGenIrs587779185
Biobankrs587779185
1000 genomesrs587779185
hgdprs587779185
ensemblrs587779185
geneviewrs587779185
scholarrs587779185
googlers587779185
pharmgkbrs587779185
gwascentralrs587779185
openSNPrs587779185
23andMers587779185
SNPshotrs587779185
SNPdbers587779185
MSV3drs587779185
GWAS Ctlgrs587779185
Max Magnitude6
ClinVar
Risk rs587779185(-;-) Rs587779185(CTGT;CTGT) rs587779185(GTCT;GTCT)
Alt rs587779185(-;-) Rs587779185(CTGT;CTGT) rs587779185(GTCT;GTCT)
Reference Rs587779185(TCTG;TCTG)
Significance Pathogenic
Disease Lynch syndrome Lynch syndrome I Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome Lynch syndrome I Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47641426_47641429delTCTG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076726.2, RCV000410668.1, RCV000491865.1,