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rs587776656

From SNPedia

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


Make rs587776656(-;-)
ReferenceGRCh38 38.1/142
Chromosome19
Position1221321
GeneSTK11
is asnp
is mentioned by
dbSNPrs587776656
dbSNP (classic)rs587776656
ClinGenrs587776656
ebirs587776656
HLIrs587776656
Exacrs587776656
Gnomadrs587776656
Varsomers587776656
LitVarrs587776656
Maprs587776656
PheGenIrs587776656
Biobankrs587776656
1000 genomesrs587776656
hgdprs587776656
ensemblrs587776656
geneviewrs587776656
scholarrs587776656
googlers587776656
pharmgkbrs587776656
gwascentralrs587776656
openSNPrs587776656
23andMers587776656
SNPshotrs587776656
SNPdbers587776656
MSV3drs587776656
GWAS Ctlgrs587776656
Max Magnitude5.8

c.843delG (p.Leu282Serfs)

ClinVar
Risk rs587776656(-;-)
Alt rs587776656(-;-)
Reference Rs587776656(G;G)
Significance Pathogenic
Disease Peutz-Jeghers syndrome
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome
Reversed 0
HGVS NC_000019.9:g.1221320delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000007866.3,