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rs1060503110

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060503110(G;G)
Make rs1060503110(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position5978679
GenePMS2
is asnp
is mentioned by
dbSNPrs1060503110
dbSNP (classic)rs1060503110
ClinGenrs1060503110
ebirs1060503110
HLIrs1060503110
Exacrs1060503110
Gnomadrs1060503110
Varsomers1060503110
LitVarrs1060503110
Maprs1060503110
PheGenIrs1060503110
Biobankrs1060503110
1000 genomesrs1060503110
hgdprs1060503110
ensemblrs1060503110
geneviewrs1060503110
scholarrs1060503110
googlers1060503110
pharmgkbrs1060503110
gwascentralrs1060503110
openSNPrs1060503110
23andMers1060503110
SNPshotrs1060503110
SNPdbers1060503110
MSV3drs1060503110
GWAS Ctlgrs1060503110
Max Magnitude0
ClinVar
Risk rs1060503110(G;G)
Alt rs1060503110(G;G)
Reference Rs1060503110(T;T)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6018310A>C
CLNSRC
CLNACC RCV000477621.1,