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rs587779146

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;CATGTTGCAGAGCT) 6 Lynch syndrome, pathogenic mutation
Make rs587779146(CATGTTGCAGAGCT;CATGTTGCAGAGCT)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47480735
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779146
dbSNP (classic)rs587779146
ClinGenrs587779146
ebirs587779146
HLIrs587779146
Exacrs587779146
Gnomadrs587779146
Varsomers587779146
LitVarrs587779146
Maprs587779146
PheGenIrs587779146
Biobankrs587779146
1000 genomesrs587779146
hgdprs587779146
ensemblrs587779146
geneviewrs587779146
scholarrs587779146
googlers587779146
pharmgkbrs587779146
gwascentralrs587779146
openSNPrs587779146
23andMers587779146
SNPshotrs587779146
SNPdbers587779146
MSV3drs587779146
GWAS Ctlgrs587779146
Max Magnitude6
ClinVar
Risk rs587779146(TCATGTTGCAGAGC;TCATGTTGCAGAGC)
Alt rs587779146(TCATGTTGCAGAGC;TCATGTTGCAGAGC)
Reference Rs587779146(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47707861_47707874dupCATGTTGCAGAGCT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076486.2,