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rs587782898

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587782898(C;T)
Make rs587782898(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position5995586
GenePMS2
is asnp
is mentioned by
dbSNPrs587782898
ebirs587782898
HLIrs587782898
Exacrs587782898
Varsomers587782898
Maprs587782898
PheGenIrs587782898
hapmaprs587782898
1000 genomesrs587782898
hgdprs587782898
ensemblrs587782898
gopubmedrs587782898
geneviewrs587782898
scholarrs587782898
googlers587782898
pharmgkbrs587782898
gwascentralrs587782898
openSNPrs587782898
23andMers587782898
23andMe allrs587782898
SNP Nexus

SNPshotrs587782898
SNPdbers587782898
MSV3drs587782898
GWAS Ctlgrs587782898
Max Magnitude0
ClinVar
Risk rs587782898(G,T;G,T)
Alt rs587782898(G,T;G,T)
Reference rs587782898(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations Lynch syndrome
Variation info
Gene PMS2
CLNDBN Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6035217G>A; NC_000007.13:g.6035217G>C
CLNSRC
CLNACC RCV000132537.2, RCV000215676.1, RCV000227122.1,