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rs1057518830

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTG;CTG) 0 common in clinvar
Make rs1057518830(-;-)
Make rs1057518830(-;CTG)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position1221334
GeneSTK11
is asnp
is mentioned by
dbSNPrs1057518830
dbSNP (classic)rs1057518830
ClinGenrs1057518830
ebirs1057518830
HLIrs1057518830
Exacrs1057518830
Gnomadrs1057518830
Varsomers1057518830
LitVarrs1057518830
Maprs1057518830
PheGenIrs1057518830
Biobankrs1057518830
1000 genomesrs1057518830
hgdprs1057518830
ensemblrs1057518830
geneviewrs1057518830
scholarrs1057518830
googlers1057518830
pharmgkbrs1057518830
gwascentralrs1057518830
openSNPrs1057518830
23andMers1057518830
SNPshotrs1057518830
SNPdbers1057518830
MSV3drs1057518830
GWAS Ctlgrs1057518830
Max Magnitude0
ClinVar
Risk rs1057518830(-;-)
Alt rs1057518830(-;-)
Reference Rs1057518830(CTG;CTG)
Significance Probable-Pathogenic
Disease Intestinal polyposis Periorbital hyperpigmentation
Variation info
Gene STK11
CLNDBN Intestinal polyposis Periorbital hyperpigmentation
Reversed 0
HGVS NC_000019.9:g.1221333_1221335delCTG
CLNSRC
CLNACC RCV000415408.1,