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rs1057520379

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
Make rs1057520379(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position1220694
GeneSTK11
is asnp
is mentioned by
dbSNPrs1057520379
dbSNP (classic)rs1057520379
ClinGenrs1057520379
ebirs1057520379
HLIrs1057520379
Exacrs1057520379
Gnomadrs1057520379
Varsomers1057520379
LitVarrs1057520379
Maprs1057520379
PheGenIrs1057520379
Biobankrs1057520379
1000 genomesrs1057520379
hgdprs1057520379
ensemblrs1057520379
geneviewrs1057520379
scholarrs1057520379
googlers1057520379
pharmgkbrs1057520379
gwascentralrs1057520379
openSNPrs1057520379
23andMers1057520379
SNPshotrs1057520379
SNPdbers1057520379
MSV3drs1057520379
GWAS Ctlgrs1057520379
Max Magnitude5.8
ClinVar
Risk rs1057520379(G;G)
Alt rs1057520379(G;G)
Reference Rs1057520379(C;C)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene STK11
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.1220693C>G
CLNSRC
CLNACC RCV000444772.1,