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rs63750995

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 Lynch syndrome, pathogenic mutation
Make rs63750995(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47410343
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750995
dbSNP (classic)rs63750995
ClinGenrs63750995
ebirs63750995
HLIrs63750995
Exacrs63750995
Gnomadrs63750995
Varsomers63750995
LitVarrs63750995
Maprs63750995
PheGenIrs63750995
Biobankrs63750995
1000 genomesrs63750995
hgdprs63750995
ensemblrs63750995
geneviewrs63750995
scholarrs63750995
googlers63750995
pharmgkbrs63750995
gwascentralrs63750995
openSNPrs63750995
23andMers63750995
SNPshotrs63750995
SNPdbers63750995
MSV3drs63750995
GWAS Ctlgrs63750995
Max Magnitude6
ClinVar
Risk rs63750995(A;A)
Alt rs63750995(A;A)
Reference Rs63750995(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47637482dupA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076655.2,