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rs1060499962

From SNPedia

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


Make rs1060499962(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position1222999
GeneSTK11
is asnp
is mentioned by
dbSNPrs1060499962
dbSNP (classic)rs1060499962
ClinGenrs1060499962
ebirs1060499962
HLIrs1060499962
Exacrs1060499962
Gnomadrs1060499962
Varsomers1060499962
LitVarrs1060499962
Maprs1060499962
PheGenIrs1060499962
Biobankrs1060499962
1000 genomesrs1060499962
hgdprs1060499962
ensemblrs1060499962
geneviewrs1060499962
scholarrs1060499962
googlers1060499962
pharmgkbrs1060499962
gwascentralrs1060499962
openSNPrs1060499962
23andMers1060499962
SNPshotrs1060499962
SNPdbers1060499962
MSV3drs1060499962
GWAS Ctlgrs1060499962
Max Magnitude5.8
ClinVar
Risk rs1060499962(-;-)
Alt rs1060499962(-;-)
Reference Rs1060499962(AA;AA)
Significance Pathogenic
Disease Peutz-Jeghers syndrome
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome
Reversed 0
HGVS NC_000019.9:g.1222998_1222999delAA
CLNSRC
CLNACC RCV000474608.1,