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rs730881970

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
Make rs730881970(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position1219358
GeneSTK11
is asnp
is mentioned by
dbSNPrs730881970
dbSNP (classic)rs730881970
ClinGenrs730881970
ebirs730881970
HLIrs730881970
Exacrs730881970
Gnomadrs730881970
Varsomers730881970
LitVarrs730881970
Maprs730881970
PheGenIrs730881970
Biobankrs730881970
1000 genomesrs730881970
hgdprs730881970
ensemblrs730881970
geneviewrs730881970
scholarrs730881970
googlers730881970
pharmgkbrs730881970
gwascentralrs730881970
openSNPrs730881970
23andMers730881970
SNPshotrs730881970
SNPdbers730881970
MSV3drs730881970
GWAS Ctlgrs730881970
Max Magnitude5.8

c.409C>T (p.Gln137Ter)

23andMe name: i6018866

ClinVar
Risk rs730881970(A;A) rs730881970(T;T)
Alt rs730881970(A;A) rs730881970(T;T)
Reference Rs730881970(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene STK11
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000019.9:g.1219357C>A; NC_000019.9:g.1219357C>T
CLNSRC
CLNACC RCV000164582.1, RCV000492356.1,