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rs587779326

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
(AT;TTTA) 6 Lynch syndrome, pathogenic mutation
Make rs587779326(TTTA;TTTA)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5989831
GenePMS2
is asnp
is mentioned by
dbSNPrs587779326
dbSNP (classic)rs587779326
ClinGenrs587779326
ebirs587779326
HLIrs587779326
Exacrs587779326
Gnomadrs587779326
Varsomers587779326
LitVarrs587779326
Maprs587779326
PheGenIrs587779326
Biobankrs587779326
1000 genomesrs587779326
hgdprs587779326
ensemblrs587779326
geneviewrs587779326
scholarrs587779326
googlers587779326
pharmgkbrs587779326
gwascentralrs587779326
openSNPrs587779326
23andMers587779326
SNPshotrs587779326
SNPdbers587779326
MSV3drs587779326
GWAS Ctlgrs587779326
Max Magnitude6
ClinVar
Risk rs587779326(TTTA;TTTA)
Alt rs587779326(TTTA;TTTA)
Reference Rs587779326(AT;AT)
Significance Pathogenic
Disease Lynch syndrome not provided
Variation info
Gene PMS2
CLNDBN Lynch syndrome not provided
Reversed 1
HGVS NC_000007.13:g.6029462_6029463delATinsTAAA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076795.2, RCV000115650.2,