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rs397518440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
(C;C) 0 common in clinvar


Make rs397518440(-;-)
ReferenceGRCh38 38.1/141
Chromosome19
Position1219367
GeneSTK11
is asnp
is mentioned by
dbSNPrs397518440
dbSNP (classic)rs397518440
ClinGenrs397518440
ebirs397518440
HLIrs397518440
Exacrs397518440
Gnomadrs397518440
Varsomers397518440
LitVarrs397518440
Maprs397518440
PheGenIrs397518440
Biobankrs397518440
1000 genomesrs397518440
hgdprs397518440
ensemblrs397518440
geneviewrs397518440
scholarrs397518440
googlers397518440
pharmgkbrs397518440
gwascentralrs397518440
openSNPrs397518440
23andMers397518440
SNPshotrs397518440
SNPdbers397518440
MSV3drs397518440
GWAS Ctlgrs397518440
Max Magnitude5.8

c.418delC (p.Leu140Trpfs)


ClinVar
Risk rs397518440(-;-)
Alt rs397518440(-;-)
Reference Rs397518440(C;C)
Significance Pathogenic
Disease Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000019.9:g.1219366delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007875.5, RCV000492134.1,