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rs281864942

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 6 Lynch syndrome, pathogenic mutation
(-;GG) 6 Lynch syndrome, pathogenic mutation
(A;A) 0 common in clinvar
Make rs281864942(GG;GG)
ReferenceGRCh38 38.1/141
Chromosome2
Position47403378
GeneMSH2
is asnp
is mentioned by
dbSNPrs281864942
dbSNP (classic)rs281864942
ClinGenrs281864942
ebirs281864942
HLIrs281864942
Exacrs281864942
Gnomadrs281864942
Varsomers281864942
LitVarrs281864942
Maprs281864942
PheGenIrs281864942
Biobankrs281864942
1000 genomesrs281864942
hgdprs281864942
ensemblrs281864942
geneviewrs281864942
scholarrs281864942
googlers281864942
pharmgkbrs281864942
gwascentralrs281864942
openSNPrs281864942
23andMers281864942
SNPshotrs281864942
SNPdbers281864942
MSV3drs281864942
GWAS Ctlgrs281864942
Max Magnitude6
ClinVar
Risk rs281864942(G;G) rs281864942(GG;GG)
Alt rs281864942(G;G) rs281864942(GG;GG)
Reference Rs281864942(-;-)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome
Variation info
Gene MSH2
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47630516_47630517dup; NC_000002.11:g.47630516_47630517dupGG; NC_000002.11:g.47630517dupG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000491030.1, RCV000076308.2, RCV000076311.2,