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rs1060499960

From SNPedia

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


Make rs1060499960(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position1223053
GeneSTK11
is asnp
is mentioned by
dbSNPrs1060499960
dbSNP (classic)rs1060499960
ClinGenrs1060499960
ebirs1060499960
HLIrs1060499960
Exacrs1060499960
Gnomadrs1060499960
Varsomers1060499960
LitVarrs1060499960
Maprs1060499960
PheGenIrs1060499960
Biobankrs1060499960
1000 genomesrs1060499960
hgdprs1060499960
ensemblrs1060499960
geneviewrs1060499960
scholarrs1060499960
googlers1060499960
pharmgkbrs1060499960
gwascentralrs1060499960
openSNPrs1060499960
23andMers1060499960
SNPshotrs1060499960
SNPdbers1060499960
MSV3drs1060499960
GWAS Ctlgrs1060499960
Max Magnitude5.8
ClinVar
Risk rs1060499960(-;-)
Alt rs1060499960(-;-)
Reference Rs1060499960(GGACCGGT;GGACCGGT)
Significance Pathogenic
Disease Peutz-Jeghers syndrome
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome
Reversed 0
HGVS NC_000019.9:g.1223052_1223059delACCGGTGG
CLNSRC
CLNACC RCV000464957.1,