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rs201451115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 6 Lynch syndrome, pathogenic mutation
(T;T) 0 common in clinvar


Make rs201451115(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position5986826
GenePMS2
is asnp
is mentioned by
dbSNPrs201451115
dbSNP (classic)rs201451115
ClinGenrs201451115
ebirs201451115
HLIrs201451115
Exacrs201451115
Gnomadrs201451115
Varsomers201451115
LitVarrs201451115
Maprs201451115
PheGenIrs201451115
Biobankrs201451115
1000 genomesrs201451115
hgdprs201451115
ensemblrs201451115
geneviewrs201451115
scholarrs201451115
googlers201451115
pharmgkbrs201451115
gwascentralrs201451115
openSNPrs201451115
23andMers201451115
SNPshotrs201451115
SNPdbers201451115
MSV3drs201451115
GWAS Ctlgrs201451115
Max Magnitude6
ClinVar
Risk rs201451115(A;A)
Alt rs201451115(A;A)
Reference Rs201451115(T;T)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene PMS2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000007.13:g.6026457T>A
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076836.2, RCV000128864.2, RCV000414304.1,