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rs121913324

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
Make rs121913324(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position1207022
GeneSTK11
is asnp
is mentioned by
dbSNPrs121913324
dbSNP (old)rs121913324
ClinGenrs121913324
ebirs121913324
HLIrs121913324
Exacrs121913324
Gnomadrs121913324
Varsomers121913324
LitVarrs121913324
Maprs121913324
PheGenIrs121913324
Biobankrs121913324
1000 genomesrs121913324
hgdprs121913324
ensemblrs121913324
gopubmedrs121913324
geneviewrs121913324
scholarrs121913324
googlers121913324
pharmgkbrs121913324
gwascentralrs121913324
openSNPrs121913324
23andMers121913324
23andMe allrs121913324
SNPshotrs121913324
SNPdbers121913324
MSV3drs121913324
GWAS Ctlgrs121913324
Max Magnitude5.8

c.109C>T (p.Gln37Ter)

23andMe name: i6018839

ClinVar
Risk rs121913324(T;T)
Alt rs121913324(T;T)
Reference Rs121913324(C;C)
Significance Pathogenic
Disease Neoplasm Hereditary cancer-predisposing syndrome
Variation info
Gene STK11
CLNDBN Neoplasm Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000019.9:g.1207021C>T
CLNSRC
CLNACC RCV000424203.1, RCV000492327.1,