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rs376280361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
(G;G) 0 common in clinvar
Make rs376280361(A;A)
Make rs376280361(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position1221997
GeneSTK11
is asnp
is mentioned by
dbSNPrs376280361
dbSNP (classic)rs376280361
ClinGenrs376280361
ebirs376280361
HLIrs376280361
Exacrs376280361
Gnomadrs376280361
Varsomers376280361
LitVarrs376280361
Maprs376280361
PheGenIrs376280361
Biobankrs376280361
1000 genomesrs376280361
hgdprs376280361
ensemblrs376280361
geneviewrs376280361
scholarrs376280361
googlers376280361
pharmgkbrs376280361
gwascentralrs376280361
openSNPrs376280361
23andMers376280361
SNPshotrs376280361
SNPdbers376280361
MSV3drs376280361
GWAS Ctlgrs376280361
Max Magnitude5.8

c.911G>C (p.Arg304Pro)

23andMe name: i6018851


ClinVar
Risk rs376280361(A;A)
Alt rs376280361(A;A)
Reference Rs376280361(G;G)
Significance Pathogenic
Disease not specified Hereditary cancer-predisposing syndrome
Variation info
Gene STK11
CLNDBN not specified Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000019.9:g.1221996G>A; NC_000019.9:g.1221996G>C
CLNSRC
CLNACC RCV000479636.1, RCV000492320.1,