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rs137854584

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
Make rs137854584(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position1207082
GeneSTK11
is asnp
is mentioned by
dbSNPrs137854584
dbSNP (classic)rs137854584
ClinGenrs137854584
ebirs137854584
HLIrs137854584
Exacrs137854584
Gnomadrs137854584
Varsomers137854584
LitVarrs137854584
Maprs137854584
PheGenIrs137854584
Biobankrs137854584
1000 genomesrs137854584
hgdprs137854584
ensemblrs137854584
geneviewrs137854584
scholarrs137854584
googlers137854584
pharmgkbrs137854584
gwascentralrs137854584
openSNPrs137854584
23andMers137854584
SNPshotrs137854584
SNPdbers137854584
MSV3drs137854584
GWAS Ctlgrs137854584
Max Magnitude5.8

c.169G>T (p.Glu57Ter)

23andMe name: i5006535

OMIM602216
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137854584(T;T)
Alt rs137854584(T;T)
Reference Rs137854584(G;G)
Significance Pathogenic
Disease Peutz-Jeghers syndrome
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome
Reversed 0
HGVS NC_000019.9:g.1207081G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007873.4,