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rs63751192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;CGAC) 6 Lynch syndrome, pathogenic mutation
(I;I) 0
Make rs63751192(CGAC;CGAC)
ReferenceGRCh38 38.1/141
Chromosome2
Position47429884
GeneMSH2
is asnp
is mentioned by
dbSNPrs63751192
dbSNP (classic)rs63751192
ClinGenrs63751192
ebirs63751192
HLIrs63751192
Exacrs63751192
Gnomadrs63751192
Varsomers63751192
LitVarrs63751192
Maprs63751192
PheGenIrs63751192
Biobankrs63751192
1000 genomesrs63751192
hgdprs63751192
ensemblrs63751192
geneviewrs63751192
scholarrs63751192
googlers63751192
pharmgkbrs63751192
gwascentralrs63751192
openSNPrs63751192
23andMers63751192
SNPshotrs63751192
SNPdbers63751192
MSV3drs63751192
GWAS Ctlgrs63751192
Max Magnitude6
ClinVar
Risk rs63751192(CCGA;CCGA) rs63751192(CGAC;CGAC)
Alt rs63751192(CCGA;CCGA) rs63751192(CGAC;CGAC)
Reference Rs63751192(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47657020_47657023dupCGAC
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076064.2,