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rs200640585

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Lynch syndrome, pathogenic mutation
(C;T) 6 Lynch syndrome
(G;G) 0 common in clinvar


Make rs200640585(A;A)
ReferenceGRCh38 38.1/142
Chromosome7
Position5992018
GenePMS2
is asnp
is mentioned by
dbSNPrs200640585
dbSNP (classic)rs200640585
ClinGenrs200640585
ebirs200640585
HLIrs200640585
Exacrs200640585
Gnomadrs200640585
Varsomers200640585
LitVarrs200640585
Maprs200640585
PheGenIrs200640585
Biobankrs200640585
1000 genomesrs200640585
hgdprs200640585
ensemblrs200640585
geneviewrs200640585
scholarrs200640585
googlers200640585
pharmgkbrs200640585
gwascentralrs200640585
openSNPrs200640585
23andMers200640585
SNPshotrs200640585
SNPdbers200640585
MSV3drs200640585
GWAS Ctlgrs200640585
Max Magnitude6
ClinVar
Risk rs200640585(A;A)
Alt rs200640585(A;A)
Reference Rs200640585(G;G)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer not provided
Variation info
Gene PMS2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis not provided
Reversed 0
HGVS NC_000007.13:g.6031649G>A
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076901.2, RCV000115711.4, RCV000148734.1, RCV000212858.1,