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rs587782074

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587782074(G;T)
Make rs587782074(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position6008996
GeneAIMP2, PMS2
is asnp
is mentioned by
dbSNPrs587782074
dbSNP (classic)rs587782074
ClinGenrs587782074
ebirs587782074
HLIrs587782074
Exacrs587782074
Gnomadrs587782074
Varsomers587782074
LitVarrs587782074
Maprs587782074
PheGenIrs587782074
Biobankrs587782074
1000 genomesrs587782074
hgdprs587782074
ensemblrs587782074
geneviewrs587782074
scholarrs587782074
googlers587782074
pharmgkbrs587782074
gwascentralrs587782074
openSNPrs587782074
23andMers587782074
SNPshotrs587782074
SNPdbers587782074
MSV3drs587782074
GWAS Ctlgrs587782074
Max Magnitude0
ClinVar
Risk rs587782074(T;T)
Alt rs587782074(T;T)
Reference Rs587782074(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided
Variation info
Gene PMS2 AIMP2
CLNDBN Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000007.13:g.6048627C>A
CLNSRC
CLNACC RCV000130565.2, RCV000479138.1,