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rs63750364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 Lynch syndrome, pathogenic mutation
(-;T) 6 Lynch syndrome
Make rs63750364(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47412455
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750364
dbSNP (classic)rs63750364
ClinGenrs63750364
ebirs63750364
HLIrs63750364
Exacrs63750364
Gnomadrs63750364
Varsomers63750364
LitVarrs63750364
Maprs63750364
PheGenIrs63750364
Biobankrs63750364
1000 genomesrs63750364
hgdprs63750364
ensemblrs63750364
geneviewrs63750364
scholarrs63750364
googlers63750364
pharmgkbrs63750364
gwascentralrs63750364
openSNPrs63750364
23andMers63750364
SNPshotrs63750364
SNPdbers63750364
MSV3drs63750364
GWAS Ctlgrs63750364
Max Magnitude6
ClinVar
Risk rs63750364(A;A) rs63750364(T;T)
Alt rs63750364(A;A) rs63750364(T;T)
Reference Rs63750364(-;-)
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.47639594_47639595insT; NC_000002.11:g.47639594dup; NC_000002.11:g.47639594dupA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000491983.1, RCV000491369.1, RCV000076682.2,