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rs121918454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918454(C;G)
Make rs121918454(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450395
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918454
ebirs121918454
HLIrs121918454
Exacrs121918454
Varsomers121918454
Maprs121918454
PheGenIrs121918454
hapmaprs121918454
1000 genomesrs121918454
hgdprs121918454
ensemblrs121918454
gopubmedrs121918454
geneviewrs121918454
scholarrs121918454
googlers121918454
pharmgkbrs121918454
gwascentralrs121918454
openSNPrs121918454
23andMers121918454
23andMe allrs121918454
SNP Nexus

SNPshotrs121918454
SNPdbers121918454
MSV3drs121918454
GWAS Ctlgrs121918454
Max Magnitude0
OMIM176876
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918454(G,T;G,T)
Alt rs121918454(G,T;G,T)
Reference rs121918454(C;C)
Significance Pathogenic
Disease Noonan syndrome 1 Noonan syndrome not provided
Variation info
Gene PTPN11
CLNDBN Noonan syndrome 1 Noonan syndrome not provided
Reversed 0
HGVS NC_000012.11:g.112888199C>G; NC_000012.11:g.112888199C>T
CLNSRC OMIM Allelic Variant HGMD
CLNACC RCV000014253.26, RCV000157006.2, RCV000157679.2, RCV000034328.5,