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rs137853082

From SNPedia

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


Make rs137853082(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position1220700
GeneSTK11
is asnp
is mentioned by
dbSNPrs137853082
dbSNP (old)rs137853082
ClinGenrs137853082
ebirs137853082
HLIrs137853082
Exacrs137853082
Gnomadrs137853082
Varsomers137853082
LitVarrs137853082
Maprs137853082
PheGenIrs137853082
Biobankrs137853082
1000 genomesrs137853082
hgdprs137853082
ensemblrs137853082
gopubmedrs137853082
geneviewrs137853082
scholarrs137853082
googlers137853082
pharmgkbrs137853082
gwascentralrs137853082
openSNPrs137853082
23andMers137853082
23andMe allrs137853082
SNPshotrs137853082
SNPdbers137853082
MSV3drs137853082
GWAS Ctlgrs137853082
Max Magnitude5.8

c.717G>A (p.Trp239Ter) and also c.717G>C (p.Trp239Cys)

23andMe name for c.717G>C: i6018895

OMIM602216
Desc
Variant0021
Relatedalso
ClinVar
Risk rs137853082(A;A) rs137853082(C;C)
Alt rs137853082(A;A) rs137853082(C;C)
Reference Rs137853082(G;G)
Significance Other
Disease not provided Peutz-Jeghers syndrome
Variation info
Gene STK11
CLNDBN not provided Peutz-Jeghers syndrome
Reversed 0
HGVS NC_000019.9:g.1220699G>A; NC_000019.9:g.1220699G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000399421.1, RCV000007884.6,