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rs137853078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5.8 STK11 gene mutation associated with Peutz-Jeghers syndrome
(G;G) 0 common in clinvar


Make rs137853078(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position1220396
GeneSTK11
is asnp
is mentioned by
dbSNPrs137853078
dbSNP (classic)rs137853078
ClinGenrs137853078
ebirs137853078
HLIrs137853078
Exacrs137853078
Gnomadrs137853078
Varsomers137853078
LitVarrs137853078
Maprs137853078
PheGenIrs137853078
Biobankrs137853078
1000 genomesrs137853078
hgdprs137853078
ensemblrs137853078
geneviewrs137853078
scholarrs137853078
googlers137853078
pharmgkbrs137853078
gwascentralrs137853078
openSNPrs137853078
23andMers137853078
SNPshotrs137853078
SNPdbers137853078
MSV3drs137853078
GWAS Ctlgrs137853078
Max Magnitude5.8

c.488G>A (p.Gly163Asp)

23andMe name: i5006536

OMIM602216
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137853078(A;A)
Alt rs137853078(A;A)
Reference Rs137853078(G;G)
Significance Pathogenic
Disease Malignant tumor of testis Hereditary cancer-predisposing syndrome
Variation info
Gene STK11
CLNDBN Malignant tumor of testis Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000019.9:g.1220395G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007874.6, RCV000492740.1,