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rs864622707

From SNPedia

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


Make rs864622707(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position1219343
GeneSTK11
is asnp
is mentioned by
dbSNPrs864622707
dbSNP (classic)rs864622707
ClinGenrs864622707
ebirs864622707
HLIrs864622707
Exacrs864622707
Gnomadrs864622707
Varsomers864622707
LitVarrs864622707
Maprs864622707
PheGenIrs864622707
Biobankrs864622707
1000 genomesrs864622707
hgdprs864622707
ensemblrs864622707
geneviewrs864622707
scholarrs864622707
googlers864622707
pharmgkbrs864622707
gwascentralrs864622707
openSNPrs864622707
23andMers864622707
SNPshotrs864622707
SNPdbers864622707
MSV3drs864622707
GWAS Ctlgrs864622707
Max Magnitude5.8

c.394delT (p.Cys132Alafs)

23andMe name: i723234

ClinVar
Risk rs864622707(-;-)
Alt rs864622707(-;-)
Reference Rs864622707(T;T)
Significance Pathogenic
Disease Peutz-Jeghers syndrome
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome
Reversed 0
HGVS NC_000019.9:g.1219342delT
CLNSRC
CLNACC RCV000205945.1,