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rs587781317

From SNPedia

Orientationminus
Stabilizedminus
Make rs587781317(C;C)
Make rs587781317(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position5982903
GenePMS2
is asnp
is mentioned by
dbSNPrs587781317
dbSNP (classic)rs587781317
ClinGenrs587781317
ebirs587781317
HLIrs587781317
Exacrs587781317
Gnomadrs587781317
Varsomers587781317
LitVarrs587781317
Maprs587781317
PheGenIrs587781317
Biobankrs587781317
1000 genomesrs587781317
hgdprs587781317
ensemblrs587781317
geneviewrs587781317
scholarrs587781317
googlers587781317
pharmgkbrs587781317
gwascentralrs587781317
openSNPrs587781317
23andMers587781317
SNPshotrs587781317
SNPdbers587781317
MSV3drs587781317
GWAS Ctlgrs587781317
Max Magnitude0
ClinVar
Risk rs587781317(C;C)
Alt rs587781317(C;C)
Reference Rs587781317(G;G)
Significance Probable-Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided Lynch syndrome
Variation info
Gene PMS2
CLNDBN Hereditary cancer-predisposing syndrome not provided Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6022534C>G
CLNSRC
CLNACC RCV000129052.2, RCV000214144.1, RCV000234750.2,