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rs63750614

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 6 Lynch syndrome, pathogenic mutation
(I;I) 0
Make rs63750614(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47403225
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750614
dbSNP (classic)rs63750614
ClinGenrs63750614
ebirs63750614
HLIrs63750614
Exacrs63750614
Gnomadrs63750614
Varsomers63750614
LitVarrs63750614
Maprs63750614
PheGenIrs63750614
Biobankrs63750614
1000 genomesrs63750614
hgdprs63750614
ensemblrs63750614
geneviewrs63750614
scholarrs63750614
googlers63750614
pharmgkbrs63750614
gwascentralrs63750614
openSNPrs63750614
23andMers63750614
SNPshotrs63750614
SNPdbers63750614
MSV3drs63750614
GWAS Ctlgrs63750614
Max Magnitude6
ClinVar
Risk rs63750614(G;G)
Alt rs63750614(G;G)
Reference Rs63750614(-;-)
Significance Pathogenic
Disease Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47630364dupG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076570.2, RCV000202253.1, RCV000221149.2,