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rs587779330

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587779330(-;A)
Make rs587779330(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5987034
GenePMS2
is asnp
is mentioned by
dbSNPrs587779330
ClinGenrs587779330
ebirs587779330
HLIrs587779330
Exacrs587779330
Varsomers587779330
Maprs587779330
PheGenIrs587779330
hapmaprs587779330
1000 genomesrs587779330
hgdprs587779330
ensemblrs587779330
gopubmedrs587779330
geneviewrs587779330
scholarrs587779330
googlers587779330
pharmgkbrs587779330
gwascentralrs587779330
openSNPrs587779330
23andMers587779330
23andMe allrs587779330
SNP Nexus

SNPshotrs587779330
SNPdbers587779330
MSV3drs587779330
GWAS Ctlgrs587779330
Max Magnitude0
ClinVar
Risk rs587779330(A;A)
Alt rs587779330(A;A)
Reference Rs587779330(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6026666dupT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076822.2,