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rs587779067

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779067(C;G)
Make rs587779067(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47416399
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779067
ebirs587779067
HLIrs587779067
Exacrs587779067
Varsomers587779067
Maprs587779067
PheGenIrs587779067
hapmaprs587779067
1000 genomesrs587779067
hgdprs587779067
ensemblrs587779067
gopubmedrs587779067
geneviewrs587779067
scholarrs587779067
googlers587779067
pharmgkbrs587779067
gwascentralrs587779067
openSNPrs587779067
23andMers587779067
23andMe allrs587779067
SNP Nexus

SNPshotrs587779067
SNPdbers587779067
MSV3drs587779067
GWAS Ctlgrs587779067
Max Magnitude0
ClinVar
Risk rs587779067(G,T;G,T)
Alt rs587779067(G,T;G,T)
Reference rs587779067(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.47643538C>G; NC_000002.11:g.47643538C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076008.2, RCV000076009.2, RCV000217955.1,