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rs80338836

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTG;GTG) 0 common in clinvar
(TGG;TGG) 0 common in clinvar
Make rs80338836(-;-)
Make rs80338836(-;GTG)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450359
GenePTPN11
is asnp
is mentioned by
dbSNPrs80338836
ebirs80338836
HLIrs80338836
Exacrs80338836
Varsomers80338836
Maprs80338836
PheGenIrs80338836
hapmaprs80338836
1000 genomesrs80338836
hgdprs80338836
ensemblrs80338836
gopubmedrs80338836
geneviewrs80338836
scholarrs80338836
googlers80338836
pharmgkbrs80338836
gwascentralrs80338836
openSNPrs80338836
23andMers80338836
23andMe allrs80338836
SNP Nexus

SNPshotrs80338836
SNPdbers80338836
MSV3drs80338836
GWAS Ctlgrs80338836
Max Magnitude0
OMIM176876
Desc
Variant0024
Relatedalso
ClinVar
Risk rs80338836(;)
Alt rs80338836(;)
Reference rs80338836(TGG;TGG)
Significance Pathogenic
Disease Noonan syndrome 1
Variation info
Gene PTPN11
CLNDBN Noonan syndrome 1
Reversed 0
HGVS NC_000012.11:g.112888163_112888165delGTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000014274.3,


[PMID 15240615] Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.