Have questions? Visit https://www.reddit.com/r/SNPedia

rs587779335

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs587779335(-;-)
Make rs587779335(-;TC)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position5978684
GenePMS2
is asnp
is mentioned by
dbSNPrs587779335
dbSNP (old)rs587779335
ClinGenrs587779335
ebirs587779335
HLIrs587779335
Exacrs587779335
Gnomadrs587779335
Varsomers587779335
Maprs587779335
PheGenIrs587779335
Biobankrs587779335
1000 genomesrs587779335
hgdprs587779335
ensemblrs587779335
gopubmedrs587779335
geneviewrs587779335
scholarrs587779335
googlers587779335
pharmgkbrs587779335
gwascentralrs587779335
openSNPrs587779335
23andMers587779335
23andMe allrs587779335
SNP Nexus

SNPshotrs587779335
SNPdbers587779335
MSV3drs587779335
GWAS Ctlgrs587779335
Max Magnitude0
ClinVar
Risk rs587779335(-;-)
Alt rs587779335(-;-)
Reference Rs587779335(TC;TC)
Significance Pathogenic
Disease Turcot syndrome Lynch syndrome I Lynch syndrome
Variation info
Gene PMS2
CLNDBN Turcot syndrome Lynch syndrome I Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6018315_6018316delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000009819.4, RCV000172821.2, RCV000365642.1,