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rs137853075

From SNPedia

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


Make rs137853075(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position1221237
GeneSTK11
is asnp
is mentioned by
dbSNPrs137853075
dbSNP (classic)rs137853075
ClinGenrs137853075
ebirs137853075
HLIrs137853075
Exacrs137853075
Gnomadrs137853075
Varsomers137853075
LitVarrs137853075
Maprs137853075
PheGenIrs137853075
Biobankrs137853075
1000 genomesrs137853075
hgdprs137853075
ensemblrs137853075
geneviewrs137853075
scholarrs137853075
googlers137853075
pharmgkbrs137853075
gwascentralrs137853075
openSNPrs137853075
23andMers137853075
23andMe allrs137853075
SNPshotrs137853075
SNPdbers137853075
MSV3drs137853075
GWAS Ctlgrs137853075
Max Magnitude5.8

c.759C>A (p.Tyr253Ter)

23andMe name: i6018884

OMIM602216
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853075(A;A) rs137853075(T;T)
Alt rs137853075(A;A) rs137853075(T;T)
Reference Rs137853075(C;C)
Significance Pathogenic
Disease Peutz-Jeghers syndrome not specified
Variation info
Gene STK11
CLNDBN Peutz-Jeghers syndrome not specified
Reversed 0
HGVS NC_000019.9:g.1221236C>A; NC_000019.9:g.1221236C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007865.4, RCV000421885.1,