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rs587779344

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779344(-;-)
Make rs587779344(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5997349
GenePMS2
is asnp
is mentioned by
dbSNPrs587779344
ebirs587779344
HLIrs587779344
Exacrs587779344
Varsomers587779344
Maprs587779344
PheGenIrs587779344
hapmaprs587779344
1000 genomesrs587779344
hgdprs587779344
ensemblrs587779344
gopubmedrs587779344
geneviewrs587779344
scholarrs587779344
googlers587779344
pharmgkbrs587779344
gwascentralrs587779344
openSNPrs587779344
23andMers587779344
23andMe allrs587779344
SNP Nexus

SNPshotrs587779344
SNPdbers587779344
MSV3drs587779344
GWAS Ctlgrs587779344
Max Magnitude0
ClinVar
Risk rs587779344(;)
Alt rs587779344(;)
Reference rs587779344(C;C)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6036980delG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076886.2,