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rs63749848

From SNPedia

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


Make rs63749848(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47408418
GeneMSH2
is asnp
is mentioned by
dbSNPrs63749848
dbSNP (classic)rs63749848
ClinGenrs63749848
ebirs63749848
HLIrs63749848
Exacrs63749848
Gnomadrs63749848
Varsomers63749848
LitVarrs63749848
Maprs63749848
PheGenIrs63749848
Biobankrs63749848
1000 genomesrs63749848
hgdprs63749848
ensemblrs63749848
geneviewrs63749848
scholarrs63749848
googlers63749848
pharmgkbrs63749848
gwascentralrs63749848
openSNPrs63749848
23andMers63749848
SNPshotrs63749848
SNPdbers63749848
MSV3drs63749848
GWAS Ctlgrs63749848
Max Magnitude6
ClinVar
Risk rs63749848(-;-)
Alt rs63749848(-;-)
Reference Rs63749848(AG;AG)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47635557_47635558delAG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076455.2, RCV000220900.2,