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rs730881959

From SNPedia

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


Make rs730881959(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position1207131
GeneSTK11
is asnp
is mentioned by
dbSNPrs730881959
dbSNP (classic)rs730881959
ClinGenrs730881959
ebirs730881959
HLIrs730881959
Exacrs730881959
Gnomadrs730881959
Varsomers730881959
LitVarrs730881959
Maprs730881959
PheGenIrs730881959
Biobankrs730881959
1000 genomesrs730881959
hgdprs730881959
ensemblrs730881959
geneviewrs730881959
scholarrs730881959
googlers730881959
pharmgkbrs730881959
gwascentralrs730881959
openSNPrs730881959
23andMers730881959
SNPshotrs730881959
SNPdbers730881959
MSV3drs730881959
GWAS Ctlgrs730881959
Max Magnitude5.8
ClinVar
Risk rs730881959(-;-)
Alt rs730881959(-;-)
Reference Rs730881959(GTGCAGGAGGGCC;GTGCAGGAGGGCC)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene STK11
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000019.9:g.1207130_1207142delGCAGGAGGGCCGT
CLNSRC
CLNACC RCV000160968.1,