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rs121918467

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918467(C;T)
Make rs121918467(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112486482
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918467
ebirs121918467
HLIrs121918467
Exacrs121918467
Varsomers121918467
Maprs121918467
PheGenIrs121918467
hapmaprs121918467
1000 genomesrs121918467
hgdprs121918467
ensemblrs121918467
gopubmedrs121918467
geneviewrs121918467
scholarrs121918467
googlers121918467
pharmgkbrs121918467
gwascentralrs121918467
openSNPrs121918467
23andMers121918467
23andMe allrs121918467
SNP Nexus

SNPshotrs121918467
SNPdbers121918467
MSV3drs121918467
GWAS Ctlgrs121918467
Max Magnitude0
OMIM176876
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121918467(A,T;A,T)
Alt rs121918467(A,T;A,T)
Reference rs121918467(C;C)
Significance Pathogenic
Disease Noonan syndrome 1
Variation info
Gene PTPN11
CLNDBN Noonan syndrome 1
Reversed 0
HGVS NC_000012.11:g.112924286C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014269.2,