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rs63751246

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs63751246(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47403273
GeneMSH2
is asnp
is mentioned by
dbSNPrs63751246
dbSNP (classic)rs63751246
ClinGenrs63751246
ebirs63751246
HLIrs63751246
Exacrs63751246
Gnomadrs63751246
Varsomers63751246
LitVarrs63751246
Maprs63751246
PheGenIrs63751246
Biobankrs63751246
1000 genomesrs63751246
hgdprs63751246
ensemblrs63751246
geneviewrs63751246
scholarrs63751246
googlers63751246
pharmgkbrs63751246
gwascentralrs63751246
openSNPrs63751246
23andMers63751246
SNPshotrs63751246
SNPdbers63751246
MSV3drs63751246
GWAS Ctlgrs63751246
Max Magnitude6

aka c.82G>T (p.Glu28Ter)

ClinVar
Risk rs63751246(A;A) rs63751246(T;T)
Alt rs63751246(A;A) rs63751246(T;T)
Reference Rs63751246(G;G)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47630412G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076730.2, RCV000491146.1,