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rs730881979

From SNPedia

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


Make rs730881979(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position1220434
GeneSTK11
is asnp
is mentioned by
dbSNPrs730881979
dbSNP (classic)rs730881979
ClinGenrs730881979
ebirs730881979
HLIrs730881979
Exacrs730881979
Gnomadrs730881979
Varsomers730881979
LitVarrs730881979
Maprs730881979
PheGenIrs730881979
Biobankrs730881979
1000 genomesrs730881979
hgdprs730881979
ensemblrs730881979
geneviewrs730881979
scholarrs730881979
googlers730881979
pharmgkbrs730881979
gwascentralrs730881979
openSNPrs730881979
23andMers730881979
SNPshotrs730881979
SNPdbers730881979
MSV3drs730881979
GWAS Ctlgrs730881979
Max Magnitude5.8
ClinVar
Risk rs730881979(A;A)
Alt rs730881979(A;A)
Reference Rs730881979(G;G)
Significance Probable-Pathogenic
Disease Peutz-Jeghers syndrome
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome
Reversed 0
HGVS NC_000019.9:g.1220433G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000429467.1,