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rs863224448

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 rs863224448(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position1221948
GeneSTK11
is asnp
is mentioned by
dbSNPrs863224448
dbSNP (classic)rs863224448
ClinGenrs863224448
ebirs863224448
HLIrs863224448
Exacrs863224448
Gnomadrs863224448
Varsomers863224448
LitVarrs863224448
Maprs863224448
PheGenIrs863224448
Biobankrs863224448
1000 genomesrs863224448
hgdprs863224448
ensemblrs863224448
geneviewrs863224448
scholarrs863224448
googlers863224448
pharmgkbrs863224448
gwascentralrs863224448
openSNPrs863224448
23andMers863224448
SNPshotrs863224448
SNPdbers863224448
MSV3drs863224448
GWAS Ctlgrs863224448
Max Magnitude5.8
ClinVar
Risk rs863224448(A;A)
Alt rs863224448(A;A)
Reference Rs863224448(G;G)
Significance Probable-Pathogenic
Disease Peutz-Jeghers syndrome
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome
Reversed 0
HGVS NC_000019.9:g.1221947G>A
CLNSRC
CLNACC RCV000196256.1,