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rs587780059

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587780059(C;C)
Make rs587780059(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position6009018
GeneAIMP2, PMS2
is asnp
is mentioned by
dbSNPrs587780059
ebirs587780059
HLIrs587780059
Exacrs587780059
Varsomers587780059
Maprs587780059
PheGenIrs587780059
hapmaprs587780059
1000 genomesrs587780059
hgdprs587780059
ensemblrs587780059
gopubmedrs587780059
geneviewrs587780059
scholarrs587780059
googlers587780059
pharmgkbrs587780059
gwascentralrs587780059
openSNPrs587780059
23andMers587780059
23andMe allrs587780059
SNP Nexus

SNPshotrs587780059
SNPdbers587780059
MSV3drs587780059
GWAS Ctlgrs587780059
Max Magnitude0
ClinVar
Risk rs587780059(A,C;A,C)
Alt rs587780059(A,C;A,C)
Reference rs587780059(T;T)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations not provided Hereditary cancer-predisposing syndrome Lynch syndrome
Variation info
Gene PMS2 AIMP2
CLNDBN Tumor susceptibility linked to germline BAP1 mutations not provided Hereditary cancer-predisposing syndrome Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6048649A>C; NC_000007.13:g.6048649A>G; NC_000007.13:g.6048649A>T
CLNSRC
CLNACC RCV000219633.1, RCV000115692.3, RCV000160895.3, RCV000212834.1, RCV000229181.1,