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rs137853077

From SNPedia

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


Make rs137853077(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position1207113
GeneSTK11
is asnp
is mentioned by
dbSNPrs137853077
dbSNP (classic)rs137853077
ClinGenrs137853077
ebirs137853077
HLIrs137853077
Exacrs137853077
Gnomadrs137853077
Varsomers137853077
LitVarrs137853077
Maprs137853077
PheGenIrs137853077
Biobankrs137853077
1000 genomesrs137853077
hgdprs137853077
ensemblrs137853077
geneviewrs137853077
scholarrs137853077
googlers137853077
pharmgkbrs137853077
gwascentralrs137853077
openSNPrs137853077
23andMers137853077
SNPshotrs137853077
SNPdbers137853077
MSV3drs137853077
GWAS Ctlgrs137853077
Max Magnitude5.8

c.200T>C (p.Leu67Pro)

23andMe name: i5006534

OMIM602216
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137853077(C;C)
Alt rs137853077(C;C)
Reference Rs137853077(T;T)
Significance Other
Disease Peutz-Jeghers syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000019.9:g.1207112T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007871.5, RCV000440305.1, RCV000492681.1,