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rs587779329

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779329(C;C)
Make rs587779329(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position6005890
GenePMS2
is asnp
is mentioned by
dbSNPrs587779329
ebirs587779329
HLIrs587779329
Exacrs587779329
Varsomers587779329
Maprs587779329
PheGenIrs587779329
hapmaprs587779329
1000 genomesrs587779329
hgdprs587779329
ensemblrs587779329
gopubmedrs587779329
geneviewrs587779329
scholarrs587779329
googlers587779329
pharmgkbrs587779329
gwascentralrs587779329
openSNPrs587779329
23andMers587779329
23andMe allrs587779329
SNP Nexus

SNPshotrs587779329
SNPdbers587779329
MSV3drs587779329
GWAS Ctlgrs587779329
Max Magnitude0
ClinVar
Risk rs587779329(C;C)
Alt rs587779329(C;C)
Reference rs587779329(T;T)
Significance Probable-Pathogenic
Disease Lynch syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6045521A>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076817.2,