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rs587779114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 Lynch syndrome, pathogenic mutation
Make rs587779114(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47475162
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779114
dbSNP (classic)rs587779114
ClinGenrs587779114
ebirs587779114
HLIrs587779114
Exacrs587779114
Gnomadrs587779114
Varsomers587779114
LitVarrs587779114
Maprs587779114
PheGenIrs587779114
Biobankrs587779114
1000 genomesrs587779114
hgdprs587779114
ensemblrs587779114
geneviewrs587779114
scholarrs587779114
googlers587779114
pharmgkbrs587779114
gwascentralrs587779114
openSNPrs587779114
23andMers587779114
SNPshotrs587779114
SNPdbers587779114
MSV3drs587779114
GWAS Ctlgrs587779114
Max Magnitude6
ClinVar
Risk rs587779114(A;A)
Alt rs587779114(A;A)
Reference Rs587779114(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47702301dupA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076316.2,