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rs587782018

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;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 rs587782018(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position1220718
GeneSTK11
is asnp
is mentioned by
dbSNPrs587782018
dbSNP (classic)rs587782018
ClinGenrs587782018
ebirs587782018
HLIrs587782018
Exacrs587782018
Gnomadrs587782018
Varsomers587782018
LitVarrs587782018
Maprs587782018
PheGenIrs587782018
Biobankrs587782018
1000 genomesrs587782018
hgdprs587782018
ensemblrs587782018
geneviewrs587782018
scholarrs587782018
googlers587782018
pharmgkbrs587782018
gwascentralrs587782018
openSNPrs587782018
23andMers587782018
SNPshotrs587782018
SNPdbers587782018
MSV3drs587782018
GWAS Ctlgrs587782018
Max Magnitude5.8
ClinVar
Risk rs587782018(T;T)
Alt rs587782018(T;T)
Reference Rs587782018(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene STK11
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000019.9:g.1220717G>C; NC_000019.9:g.1220717G>T
CLNSRC
CLNACC RCV000492482.1, RCV000130447.2,