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rs786203624

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 rs786203624(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position1221985
GeneSTK11
is asnp
is mentioned by
dbSNPrs786203624
dbSNP (classic)rs786203624
ClinGenrs786203624
ebirs786203624
HLIrs786203624
Exacrs786203624
Gnomadrs786203624
Varsomers786203624
LitVarrs786203624
Maprs786203624
PheGenIrs786203624
Biobankrs786203624
1000 genomesrs786203624
hgdprs786203624
ensemblrs786203624
geneviewrs786203624
scholarrs786203624
googlers786203624
pharmgkbrs786203624
gwascentralrs786203624
openSNPrs786203624
23andMers786203624
SNPshotrs786203624
SNPdbers786203624
MSV3drs786203624
GWAS Ctlgrs786203624
Max Magnitude5.8

c.899delT (p.Ile300Thrfs)

ClinVar
Risk rs786203624(-;-)
Alt rs786203624(-;-)
Reference Rs786203624(T;T)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene STK11
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000019.9:g.1221984delT
CLNSRC
CLNACC RCV000167017.1,