Have questions? Visit https://www.reddit.com/r/SNPedia

rs878853247

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
Make rs878853247(G;T)
Make rs878853247(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position1220692
GeneSTK11
is asnp
is mentioned by
dbSNPrs878853247
dbSNP (classic)rs878853247
ClinGenrs878853247
ebirs878853247
HLIrs878853247
Exacrs878853247
Gnomadrs878853247
Varsomers878853247
LitVarrs878853247
Maprs878853247
PheGenIrs878853247
Biobankrs878853247
1000 genomesrs878853247
hgdprs878853247
ensemblrs878853247
geneviewrs878853247
scholarrs878853247
googlers878853247
pharmgkbrs878853247
gwascentralrs878853247
openSNPrs878853247
23andMers878853247
SNPshotrs878853247
SNPdbers878853247
MSV3drs878853247
GWAS Ctlgrs878853247
Max Magnitude5.8
ClinVar
Risk rs878853247(T;T)
Alt rs878853247(T;T)
Reference Rs878853247(G;G)
Significance Probable-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.1220691G>C; NC_000019.9:g.1220691G>T
CLNSRC
CLNACC RCV000492258.1, RCV000225068.1,