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rs587779172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGAAA;AGAAA) 0 common in clinvar
(AGAAA;TAAT) 6 Lynch syndrome, pathogenic mutation
Make rs587779172(TAAT;TAAT)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47412443
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779172
dbSNP (classic)rs587779172
ClinGenrs587779172
ebirs587779172
HLIrs587779172
Exacrs587779172
Gnomadrs587779172
Varsomers587779172
LitVarrs587779172
Maprs587779172
PheGenIrs587779172
Biobankrs587779172
1000 genomesrs587779172
hgdprs587779172
ensemblrs587779172
geneviewrs587779172
scholarrs587779172
googlers587779172
pharmgkbrs587779172
gwascentralrs587779172
openSNPrs587779172
23andMers587779172
SNPshotrs587779172
SNPdbers587779172
MSV3drs587779172
GWAS Ctlgrs587779172
Max Magnitude6
ClinVar
Risk rs587779172(TAAT;TAAT)
Alt rs587779172(TAAT;TAAT)
Reference Rs587779172(AGAAA;AGAAA)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47639582_47639586delAGAAAinsTAAT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076679.2,