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rs587779336

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;TG) 6 Lynch syndrome, pathogenic mutation
Make rs587779336(TG;TG)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position6004001
GenePMS2
is asnp
is mentioned by
dbSNPrs587779336
dbSNP (classic)rs587779336
ClinGenrs587779336
ebirs587779336
HLIrs587779336
Exacrs587779336
Gnomadrs587779336
Varsomers587779336
LitVarrs587779336
Maprs587779336
PheGenIrs587779336
Biobankrs587779336
1000 genomesrs587779336
hgdprs587779336
ensemblrs587779336
geneviewrs587779336
scholarrs587779336
googlers587779336
pharmgkbrs587779336
gwascentralrs587779336
openSNPrs587779336
23andMers587779336
SNPshotrs587779336
SNPdbers587779336
MSV3drs587779336
GWAS Ctlgrs587779336
Max Magnitude6
ClinVar
Risk rs587779336(TG;TG)
Alt rs587779336(TG;TG)
Reference Rs587779336(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6043633_6043634dupCA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076847.2,