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rs1085307466

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
Chromosome19
Position1221990
GeneSTK11
is asnp
is mentioned by
dbSNPrs1085307466
dbSNP (classic)rs1085307466
ClinGenrs1085307466
ebirs1085307466
HLIrs1085307466
Exacrs1085307466
Gnomadrs1085307466
Varsomers1085307466
LitVarrs1085307466
Maprs1085307466
PheGenIrs1085307466
Biobankrs1085307466
1000 genomesrs1085307466
hgdprs1085307466
ensemblrs1085307466
geneviewrs1085307466
scholarrs1085307466
googlers1085307466
pharmgkbrs1085307466
gwascentralrs1085307466
openSNPrs1085307466
23andMers1085307466
23andMe allrs1085307466
SNPshotrs1085307466
SNPdbers1085307466
MSV3drs1085307466
GWAS Ctlgrs1085307466
Max Magnitude5.8

c.904C>T (p.Gln302Ter)

23andMe name: i700947

ClinVar
Risk rs1085307466(T;T)
Alt rs1085307466(T;T)
Reference Rs1085307466(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene STK11
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.1221989C>T
CLNSRC
CLNACC RCV000489355.1,