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rs398123404

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
Make rs398123404(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position1207082
GeneSTK11
is asnp
is mentioned by
dbSNPrs398123404
dbSNP (classic)rs398123404
ClinGenrs398123404
ebirs398123404
HLIrs398123404
Exacrs398123404
Gnomadrs398123404
Varsomers398123404
LitVarrs398123404
Maprs398123404
PheGenIrs398123404
Biobankrs398123404
1000 genomesrs398123404
hgdprs398123404
ensemblrs398123404
geneviewrs398123404
scholarrs398123404
googlers398123404
pharmgkbrs398123404
gwascentralrs398123404
openSNPrs398123404
23andMers398123404
SNPshotrs398123404
SNPdbers398123404
MSV3drs398123404
GWAS Ctlgrs398123404
Max Magnitude5.8

c.169dupG (p.Glu57Glyfs)

ClinVar
Risk rs398123404(G;G)
Alt rs398123404(G;G)
Reference Rs398123404(-;-)
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.1207081dupG
CLNSRC HGMD
CLNACC RCV000078911.4, RCV000492387.1,