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rs113517055

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Lynch syndrome
(C;C) 0 common in clinvar
Make rs113517055(A;A)
Make rs113517055(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position6003689
GenePMS2
is asnp
is mentioned by
dbSNPrs113517055
dbSNP (classic)rs113517055
ClinGenrs113517055
ebirs113517055
HLIrs113517055
Exacrs113517055
Gnomadrs113517055
Varsomers113517055
LitVarrs113517055
Maprs113517055
PheGenIrs113517055
Biobankrs113517055
1000 genomesrs113517055
hgdprs113517055
ensemblrs113517055
geneviewrs113517055
scholarrs113517055
googlers113517055
pharmgkbrs113517055
gwascentralrs113517055
openSNPrs113517055
23andMers113517055
SNPshotrs113517055
SNPdbers113517055
MSV3drs113517055
GWAS Ctlgrs113517055
Max Magnitude6
ClinVar
Risk rs113517055(A;A) rs113517055(T;T)
Alt rs113517055(A;A) rs113517055(T;T)
Reference Rs113517055(C;C)
Significance Probable-Pathogenic
Disease not provided Lynch syndrome
Variation info
Gene PMS2
CLNDBN not provided Lynch syndrome
Reversed 0
HGVS NC_000007.13:g.6043320C>T
CLNSRC
CLNACC RCV000217968.1, RCV000476751.1,