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rs587779122

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GA) 6 Lynch syndrome, pathogenic mutation
(AG;AG) 0 common in clinvar
(GA;GA) 0 common in clinvar


Make rs587779122(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47475251
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779122
dbSNP (classic)rs587779122
ClinGenrs587779122
ebirs587779122
HLIrs587779122
Exacrs587779122
Gnomadrs587779122
Varsomers587779122
LitVarrs587779122
Maprs587779122
PheGenIrs587779122
Biobankrs587779122
1000 genomesrs587779122
hgdprs587779122
ensemblrs587779122
geneviewrs587779122
scholarrs587779122
googlers587779122
pharmgkbrs587779122
gwascentralrs587779122
openSNPrs587779122
23andMers587779122
SNPshotrs587779122
SNPdbers587779122
MSV3drs587779122
GWAS Ctlgrs587779122
Max Magnitude6
ClinVar
Risk rs587779122(-;-) Rs587779122(AG;AG)
Alt rs587779122(-;-) Rs587779122(AG;AG)
Reference Rs587779122(GA;GA)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47702390_47702391delGA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076331.2,