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rs587778618

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587778618(C;T)
Make rs587778618(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5987078
GenePMS2
is asnp
is mentioned by
dbSNPrs587778618
ebirs587778618
HLIrs587778618
Exacrs587778618
Varsomers587778618
Maprs587778618
PheGenIrs587778618
hapmaprs587778618
1000 genomesrs587778618
hgdprs587778618
ensemblrs587778618
gopubmedrs587778618
geneviewrs587778618
scholarrs587778618
googlers587778618
pharmgkbrs587778618
gwascentralrs587778618
openSNPrs587778618
23andMers587778618
23andMe allrs587778618
SNP Nexus

SNPshotrs587778618
SNPdbers587778618
MSV3drs587778618
GWAS Ctlgrs587778618
Max Magnitude0
ClinVar
Risk rs587778618(A,T;A,T)
Alt rs587778618(A,T;A,T)
Reference rs587778618(C;C)
Significance Pathogenic
Disease not specified Hereditary cancer-predisposing syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PMS2
CLNDBN not specified Hereditary cancer-predisposing syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000007.13:g.6026709G>A; NC_000007.13:g.6026709G>T
CLNSRC
CLNACC RCV000121846.1, RCV000132169.2, RCV000222921.1, RCV000221050.1,