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rs786200991

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
Make rs786200991(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position1223052
GeneSTK11
is asnp
is mentioned by
dbSNPrs786200991
dbSNP (classic)rs786200991
ClinGenrs786200991
ebirs786200991
HLIrs786200991
Exacrs786200991
Gnomadrs786200991
Varsomers786200991
LitVarrs786200991
Maprs786200991
PheGenIrs786200991
Biobankrs786200991
1000 genomesrs786200991
hgdprs786200991
ensemblrs786200991
geneviewrs786200991
scholarrs786200991
googlers786200991
pharmgkbrs786200991
gwascentralrs786200991
openSNPrs786200991
23andMers786200991
SNPshotrs786200991
SNPdbers786200991
MSV3drs786200991
GWAS Ctlgrs786200991
Max Magnitude5.8
ClinVar
Risk rs786200991(G;G)
Alt rs786200991(G;G)
Reference Rs786200991(-;-)
Significance Pathogenic
Disease Peutz-Jeghers syndrome
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome
Reversed 0
HGVS NC_000019.9:g.1223051dupG
CLNSRC
CLNACC RCV000153995.3,