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rs63750318

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750318(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47408490
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750318
dbSNP (classic)rs63750318
ClinGenrs63750318
ebirs63750318
HLIrs63750318
Exacrs63750318
Gnomadrs63750318
Varsomers63750318
LitVarrs63750318
Maprs63750318
PheGenIrs63750318
Biobankrs63750318
1000 genomesrs63750318
hgdprs63750318
ensemblrs63750318
geneviewrs63750318
scholarrs63750318
googlers63750318
pharmgkbrs63750318
gwascentralrs63750318
openSNPrs63750318
23andMers63750318
SNPshotrs63750318
SNPdbers63750318
MSV3drs63750318
GWAS Ctlgrs63750318
Max Magnitude6
ClinVar
Risk rs63750318(T;T)
Alt rs63750318(T;T)
Reference Rs63750318(G;G)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47635629G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076561.3,