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rs267608153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608153(G;T)
Make rs267608153(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position5995534
GenePMS2
is asnp
is mentioned by
dbSNPrs267608153
ebirs267608153
HLIrs267608153
Exacrs267608153
Varsomers267608153
Maprs267608153
PheGenIrs267608153
hapmaprs267608153
1000 genomesrs267608153
hgdprs267608153
ensemblrs267608153
gopubmedrs267608153
geneviewrs267608153
scholarrs267608153
googlers267608153
pharmgkbrs267608153
gwascentralrs267608153
openSNPrs267608153
23andMers267608153
23andMe allrs267608153
SNP Nexus

SNPshotrs267608153
SNPdbers267608153
MSV3drs267608153
GWAS Ctlgrs267608153
Max Magnitude0
ClinVar
Risk rs267608153(A,T;A,T)
Alt rs267608153(A,T;A,T)
Reference rs267608153(G;G)
Significance Probable-Pathogenic
Disease Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PMS2
CLNDBN Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000007.13:g.6035165C>A; NC_000007.13:g.6035165C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076896.2, RCV000215563.1, RCV000228489.1,