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rs137853076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
Make rs137853076(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position1207163
GeneSTK11
is asnp
is mentioned by
dbSNPrs137853076
dbSNP (classic)rs137853076
ClinGenrs137853076
ebirs137853076
HLIrs137853076
Exacrs137853076
Gnomadrs137853076
Varsomers137853076
LitVarrs137853076
Maprs137853076
PheGenIrs137853076
Biobankrs137853076
1000 genomesrs137853076
hgdprs137853076
ensemblrs137853076
geneviewrs137853076
scholarrs137853076
googlers137853076
pharmgkbrs137853076
gwascentralrs137853076
openSNPrs137853076
23andMers137853076
SNPshotrs137853076
SNPdbers137853076
MSV3drs137853076
GWAS Ctlgrs137853076
Max Magnitude5.8

c.250A>T (p.Lys84Ter)

23andMe name: i5006533

OMIM602216
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137853076(T;T)
Alt rs137853076(T;T)
Reference Rs137853076(A;A)
Significance Pathogenic
Disease Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000019.9:g.1207162A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007869.5, RCV000132431.3,