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rs63750149

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 Lynch syndrome, pathogenic mutation
(I;I) 0
Make rs63750149(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47478396
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750149
dbSNP (classic)rs63750149
ClinGenrs63750149
ebirs63750149
HLIrs63750149
Exacrs63750149
Gnomadrs63750149
Varsomers63750149
LitVarrs63750149
Maprs63750149
PheGenIrs63750149
Biobankrs63750149
1000 genomesrs63750149
hgdprs63750149
ensemblrs63750149
geneviewrs63750149
scholarrs63750149
googlers63750149
pharmgkbrs63750149
gwascentralrs63750149
openSNPrs63750149
23andMers63750149
SNPshotrs63750149
SNPdbers63750149
MSV3drs63750149
GWAS Ctlgrs63750149
Max Magnitude6
ClinVar
Risk rs63750149(A;A)
Alt rs63750149(A;A)
Reference Rs63750149(-;-)
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.47705535dup; NC_000002.11:g.47705535dupA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000490902.1, RCV000076459.2,