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rs281864941

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;GA) 6 Lynch syndrome, pathogenic mutation
(A;A) 0 common in clinvar
Make rs281864941(GA;GA)
ReferenceGRCh38 38.1/141
Chromosome2
Position47471009
GeneMSH2
is asnp
is mentioned by
dbSNPrs281864941
dbSNP (classic)rs281864941
ClinGenrs281864941
ebirs281864941
HLIrs281864941
Exacrs281864941
Gnomadrs281864941
Varsomers281864941
LitVarrs281864941
Maprs281864941
PheGenIrs281864941
Biobankrs281864941
1000 genomesrs281864941
hgdprs281864941
ensemblrs281864941
geneviewrs281864941
scholarrs281864941
googlers281864941
pharmgkbrs281864941
gwascentralrs281864941
openSNPrs281864941
23andMers281864941
SNPshotrs281864941
SNPdbers281864941
MSV3drs281864941
GWAS Ctlgrs281864941
Max Magnitude6
ClinVar
Risk rs281864941(GA;GA) rs281864941(T;T)
Alt rs281864941(GA;GA) rs281864941(T;T)
Reference Rs281864941(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47698147_47698148dupGA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076254.2,