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rs878854059

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 Lynch syndrome
(T;T) 0 common in clinvar
Make rs878854059(C;C)
Make rs878854059(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position5995532
GenePMS2
is asnp
is mentioned by
dbSNPrs878854059
dbSNP (classic)rs878854059
ClinGenrs878854059
ebirs878854059
HLIrs878854059
Exacrs878854059
Gnomadrs878854059
Varsomers878854059
LitVarrs878854059
Maprs878854059
PheGenIrs878854059
Biobankrs878854059
1000 genomesrs878854059
hgdprs878854059
ensemblrs878854059
geneviewrs878854059
scholarrs878854059
googlers878854059
pharmgkbrs878854059
gwascentralrs878854059
openSNPrs878854059
23andMers878854059
SNPshotrs878854059
SNPdbers878854059
MSV3drs878854059
GWAS Ctlgrs878854059
Max Magnitude6
ClinVar
Risk rs878854059(C;C)
Alt rs878854059(C;C)
Reference Rs878854059(T;T)
Significance Probable-Pathogenic
Disease Lynch syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6035163A>G
CLNSRC
CLNACC RCV000230352.1,