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rs121913321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
(C;C) 0 common in clinvar


Make rs121913321(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position1221320
GeneSTK11
is asnp
is mentioned by
dbSNPrs121913321
dbSNP (classic)rs121913321
ClinGenrs121913321
ebirs121913321
HLIrs121913321
Exacrs121913321
Gnomadrs121913321
Varsomers121913321
LitVarrs121913321
Maprs121913321
PheGenIrs121913321
Biobankrs121913321
1000 genomesrs121913321
hgdprs121913321
ensemblrs121913321
geneviewrs121913321
scholarrs121913321
googlers121913321
pharmgkbrs121913321
gwascentralrs121913321
openSNPrs121913321
23andMers121913321
23andMe allrs121913321
SNPshotrs121913321
SNPdbers121913321
MSV3drs121913321
GWAS Ctlgrs121913321
Max Magnitude5.8

c.842delC (p.Pro281Argfs)

ClinVar
Risk rs121913321(-;-)
Alt rs121913321(-;-)
Reference Rs121913321(C;C)
Significance Pathogenic
Disease Peutz-Jeghers syndrome
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome
Reversed 0
HGVS NC_000019.9:g.1221319delC
CLNSRC
CLNACC RCV000172825.3,