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rs587779139

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779139(C;T)
Make rs587779139(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47476513
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779139
ebirs587779139
HLIrs587779139
Exacrs587779139
Varsomers587779139
Maprs587779139
PheGenIrs587779139
hapmaprs587779139
1000 genomesrs587779139
hgdprs587779139
ensemblrs587779139
gopubmedrs587779139
geneviewrs587779139
scholarrs587779139
googlers587779139
pharmgkbrs587779139
gwascentralrs587779139
openSNPrs587779139
23andMers587779139
23andMe allrs587779139
SNP Nexus

SNPshotrs587779139
SNPdbers587779139
MSV3drs587779139
GWAS Ctlgrs587779139
Max Magnitude0
ClinVar
Risk rs587779139(T;T)
Alt rs587779139(T;T)
Reference rs587779139(C;C)
Significance Pathogenic
Disease Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene MSH2
CLNDBN Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000002.11:g.47703652C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076411.2, RCV000214955.1,