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rs63749920

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 Lynch syndrome, pathogenic mutation
Make rs63749920(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47445616
GeneMSH2
is asnp
is mentioned by
dbSNPrs63749920
dbSNP (classic)rs63749920
ClinGenrs63749920
ebirs63749920
HLIrs63749920
Exacrs63749920
Gnomadrs63749920
Varsomers63749920
LitVarrs63749920
Maprs63749920
PheGenIrs63749920
Biobankrs63749920
1000 genomesrs63749920
hgdprs63749920
ensemblrs63749920
geneviewrs63749920
scholarrs63749920
googlers63749920
pharmgkbrs63749920
gwascentralrs63749920
openSNPrs63749920
23andMers63749920
SNPshotrs63749920
SNPdbers63749920
MSV3drs63749920
GWAS Ctlgrs63749920
Max Magnitude6
ClinVar
Risk rs63749920(T;T)
Alt rs63749920(T;T)
Reference Rs63749920(A;A)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47672755A>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076128.2,