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rs778531080

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;T) 6 Lynch syndrome
Make rs778531080(C;T)
Make rs778531080(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5986784
GenePMS2
is asnp
is mentioned by
dbSNPrs778531080
dbSNP (classic)rs778531080
ClinGenrs778531080
ebirs778531080
HLIrs778531080
Exacrs778531080
Gnomadrs778531080
Varsomers778531080
LitVarrs778531080
Maprs778531080
PheGenIrs778531080
Biobankrs778531080
1000 genomesrs778531080
hgdprs778531080
ensemblrs778531080
geneviewrs778531080
scholarrs778531080
googlers778531080
pharmgkbrs778531080
gwascentralrs778531080
openSNPrs778531080
23andMers778531080
SNPshotrs778531080
SNPdbers778531080
MSV3drs778531080
GWAS Ctlgrs778531080
Max Magnitude6
ClinVar
Risk rs778531080(A;A) rs778531080(T;T)
Alt rs778531080(A;A) rs778531080(T;T)
Reference Rs778531080(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene PMS2
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000007.13:g.6026415C>A
CLNSRC
CLNACC RCV000165222.1,