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rs281864943

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 6 Lynch syndrome, pathogenic mutation
(G;G) 0 common in clinvar
Make rs281864943(-;GCGGTGCAGCCGAAGGAG)
Make rs281864943(GCGGTGCAGCCGAAGGAG;GCGGTGCAGCCGAAGGAG)
ReferenceGRCh38 38.1/142
Chromosome2
Position47403212
GeneMSH2
is asnp
is mentioned by
dbSNPrs281864943
dbSNP (classic)rs281864943
ClinGenrs281864943
ebirs281864943
HLIrs281864943
Exacrs281864943
Gnomadrs281864943
Varsomers281864943
LitVarrs281864943
Maprs281864943
PheGenIrs281864943
Biobankrs281864943
1000 genomesrs281864943
hgdprs281864943
ensemblrs281864943
geneviewrs281864943
scholarrs281864943
googlers281864943
pharmgkbrs281864943
gwascentralrs281864943
openSNPrs281864943
23andMers281864943
SNPshotrs281864943
SNPdbers281864943
MSV3drs281864943
GWAS Ctlgrs281864943
Max Magnitude6
ClinVar
Risk Rs281864943(G;G) rs281864943(GCGGTGCAGCCGAAGGAG;GCGGTGCAGCCGAAGGAG)
Alt Rs281864943(G;G) rs281864943(GCGGTGCAGCCGAAGGAG;GCGGTGCAGCCGAAGGAG)
Reference Rs281864943(-;-)
Significance Pathogenic
Disease Lynch syndrome not specified Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome not specified Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47630334_47630351dup18; NC_000002.11:g.47630351dupG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076618.2, RCV000220732.1, RCV000221366.1, RCV000076420.2,