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rs1057517831

From SNPedia

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


Make rs1057517831(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position1221268
GeneSTK11
is asnp
is mentioned by
dbSNPrs1057517831
dbSNP (classic)rs1057517831
ClinGenrs1057517831
ebirs1057517831
HLIrs1057517831
Exacrs1057517831
Gnomadrs1057517831
Varsomers1057517831
LitVarrs1057517831
Maprs1057517831
PheGenIrs1057517831
Biobankrs1057517831
1000 genomesrs1057517831
hgdprs1057517831
ensemblrs1057517831
geneviewrs1057517831
scholarrs1057517831
googlers1057517831
pharmgkbrs1057517831
gwascentralrs1057517831
openSNPrs1057517831
23andMers1057517831
SNPshotrs1057517831
SNPdbers1057517831
MSV3drs1057517831
GWAS Ctlgrs1057517831
Max Magnitude5.8
ClinVar
Risk rs1057517831(-;-)
Alt rs1057517831(-;-)
Reference Rs1057517831(TTGT;TTGT)
Significance Pathogenic
Disease not provided Hereditary cancer-predisposing syndrome
Variation info
Gene STK11
CLNDBN not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000019.9:g.1221267_1221270delTTTG
CLNSRC
CLNACC RCV000414059.1, RCV000492099.1,