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rs143277125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Lynch syndrome, pathogenic mutation
(G;G) 0 common in clinvar
Make rs143277125(G;T)
Make rs143277125(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position5992012
GenePMS2
is asnp
is mentioned by
dbSNPrs143277125
dbSNP (classic)rs143277125
ClinGenrs143277125
ebirs143277125
HLIrs143277125
Exacrs143277125
Gnomadrs143277125
Varsomers143277125
LitVarrs143277125
Maprs143277125
PheGenIrs143277125
Biobankrs143277125
1000 genomesrs143277125
hgdprs143277125
ensemblrs143277125
geneviewrs143277125
scholarrs143277125
googlers143277125
pharmgkbrs143277125
gwascentralrs143277125
openSNPrs143277125
23andMers143277125
SNPshotrs143277125
SNPdbers143277125
MSV3drs143277125
GWAS Ctlgrs143277125
Max Magnitude6
ClinVar
Risk rs143277125(A;A) rs143277125(T;T)
Alt rs143277125(A;A) rs143277125(T;T)
Reference Rs143277125(G;G)
Significance Pathogenic
Disease Lynch syndrome not specified
Variation info
Gene PMS2
CLNDBN Lynch syndrome not specified
Reversed 0
HGVS NC_000007.13:g.6031643G>A; NC_000007.13:g.6031643G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076902.2, RCV000483849.1,