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rs398123405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
Make rs398123405(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position1221963
GeneSTK11
is asnp
is mentioned by
dbSNPrs398123405
dbSNP (classic)rs398123405
ClinGenrs398123405
ebirs398123405
HLIrs398123405
Exacrs398123405
Gnomadrs398123405
Varsomers398123405
LitVarrs398123405
Maprs398123405
PheGenIrs398123405
Biobankrs398123405
1000 genomesrs398123405
hgdprs398123405
ensemblrs398123405
geneviewrs398123405
scholarrs398123405
googlers398123405
pharmgkbrs398123405
gwascentralrs398123405
openSNPrs398123405
23andMers398123405
SNPshotrs398123405
SNPdbers398123405
MSV3drs398123405
GWAS Ctlgrs398123405
Max Magnitude5.8
ClinVar
Risk rs398123405(A;A) rs398123405(T;T)
Alt rs398123405(A;A) rs398123405(T;T)
Reference Rs398123405(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome
Variation info
Gene STK11
CLNDBN Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome
Reversed 0
HGVS NC_000019.9:g.1221962G>A; NC_000019.9:g.1221962G>T
CLNSRC Ambry Genetics ClinVar Emory University
CLNACC RCV000131978.2, RCV000078913.4,