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rs864622488

From SNPedia

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Geno Mag Summary
(A;G) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
(G;G) 0 common in clinvar
(G;T) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
Make rs864622488(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position1222987
GeneSTK11
is asnp
is mentioned by
dbSNPrs864622488
dbSNP (classic)rs864622488
ClinGenrs864622488
ebirs864622488
HLIrs864622488
Exacrs864622488
Gnomadrs864622488
Varsomers864622488
LitVarrs864622488
Maprs864622488
PheGenIrs864622488
Biobankrs864622488
1000 genomesrs864622488
hgdprs864622488
ensemblrs864622488
geneviewrs864622488
scholarrs864622488
googlers864622488
pharmgkbrs864622488
gwascentralrs864622488
openSNPrs864622488
23andMers864622488
SNPshotrs864622488
SNPdbers864622488
MSV3drs864622488
GWAS Ctlgrs864622488
Max Magnitude5.8
ClinVar
Risk rs864622488(T;T)
Alt rs864622488(T;T)
Reference Rs864622488(G;G)
Significance Probable-Pathogenic
Disease Peutz-Jeghers syndrome
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome
Reversed 0
HGVS NC_000019.9:g.1222986G>T
CLNSRC
CLNACC RCV000205568.1,