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rs587781626

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs587781626(AT;G)
Make rs587781626(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5973487
GenePMS2
is asnp
is mentioned by
dbSNPrs587781626
dbSNP (classic)rs587781626
ClinGenrs587781626
ebirs587781626
HLIrs587781626
Exacrs587781626
Gnomadrs587781626
Varsomers587781626
LitVarrs587781626
Maprs587781626
PheGenIrs587781626
Biobankrs587781626
1000 genomesrs587781626
hgdprs587781626
ensemblrs587781626
geneviewrs587781626
scholarrs587781626
googlers587781626
pharmgkbrs587781626
gwascentralrs587781626
openSNPrs587781626
23andMers587781626
SNPshotrs587781626
SNPdbers587781626
MSV3drs587781626
GWAS Ctlgrs587781626
Max Magnitude0
ClinVar
Risk rs587781626(G;G)
Alt rs587781626(G;G)
Reference Rs587781626(AT;AT)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome
Variation info
Gene PMS2
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6013118_6013119delATinsC
CLNSRC
CLNACC RCV000129728.2, RCV000469291.1,