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rs727504171

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TCCGGCAGC) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
(T;T) 0 common in clinvar
(TCCGGCAGC;TCCGGCAGC) 0 common/normal
Make rs727504171(G;G)
Make rs727504171(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position1221994
GeneSTK11
is asnp
is mentioned by
dbSNPrs727504171
dbSNP (classic)rs727504171
ClinGenrs727504171
ebirs727504171
HLIrs727504171
Exacrs727504171
Gnomadrs727504171
Varsomers727504171
LitVarrs727504171
Maprs727504171
PheGenIrs727504171
Biobankrs727504171
1000 genomesrs727504171
hgdprs727504171
ensemblrs727504171
geneviewrs727504171
scholarrs727504171
googlers727504171
pharmgkbrs727504171
gwascentralrs727504171
openSNPrs727504171
23andMers727504171
SNPshotrs727504171
SNPdbers727504171
MSV3drs727504171
GWAS Ctlgrs727504171
Max Magnitude5.8
ClinVar
Risk rs727504171(G;G)
Alt rs727504171(G;G)
Reference Rs727504171(T;T)
Significance Probable-Pathogenic
Disease Peutz-Jeghers syndrome
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome
Reversed 0
HGVS NC_000019.9:g.1221993T>G
CLNSRC
CLNACC RCV000153993.3,