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rs63751029

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;T) 6 Lynch syndrome, pathogenic mutation
(T;T) 0 common in clinvar


Make rs63751029(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position5999270
GenePMS2
is asnp
is mentioned by
dbSNPrs63751029
dbSNP (classic)rs63751029
ClinGenrs63751029
ebirs63751029
HLIrs63751029
Exacrs63751029
Gnomadrs63751029
Varsomers63751029
LitVarrs63751029
Maprs63751029
PheGenIrs63751029
Biobankrs63751029
1000 genomesrs63751029
hgdprs63751029
ensemblrs63751029
geneviewrs63751029
scholarrs63751029
googlers63751029
pharmgkbrs63751029
gwascentralrs63751029
openSNPrs63751029
23andMers63751029
SNPshotrs63751029
SNPdbers63751029
MSV3drs63751029
GWAS Ctlgrs63751029
Max Magnitude6
ClinVar
Risk rs63751029(-;-)
Alt rs63751029(-;-)
Reference Rs63751029(T;T)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene PMS2
CLNDBN Lynch syndrome
Reversed 1
HGVS NC_000007.13:g.6038901delA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076876.2,