Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918462

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918462(C;T)
Make rs121918462(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450398
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918462
ebirs121918462
HLIrs121918462
Exacrs121918462
Varsomers121918462
Maprs121918462
PheGenIrs121918462
hapmaprs121918462
1000 genomesrs121918462
hgdprs121918462
ensemblrs121918462
gopubmedrs121918462
geneviewrs121918462
scholarrs121918462
googlers121918462
pharmgkbrs121918462
gwascentralrs121918462
openSNPrs121918462
23andMers121918462
23andMe allrs121918462
SNP Nexus

SNPshotrs121918462
SNPdbers121918462
MSV3drs121918462
GWAS Ctlgrs121918462
Max Magnitude0
OMIM176876
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121918462(T;T)
Alt rs121918462(T;T)
Reference rs121918462(C;C)
Significance Pathogenic
Disease Noonan syndrome 1 Rasopathy Noonan syndrome not provided
Variation info
Gene PTPN11
CLNDBN Noonan syndrome 1 Rasopathy Noonan syndrome not provided
Reversed 0
HGVS NC_000012.11:g.112888202C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014262.24, RCV000033475.6, RCV000156985.1, RCV000212891.1,