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rs121918466

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918466(A;G)
Make rs121918466(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450416
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918466
ebirs121918466
HLIrs121918466
Exacrs121918466
Varsomers121918466
Maprs121918466
PheGenIrs121918466
hapmaprs121918466
1000 genomesrs121918466
hgdprs121918466
ensemblrs121918466
gopubmedrs121918466
geneviewrs121918466
scholarrs121918466
googlers121918466
pharmgkbrs121918466
gwascentralrs121918466
openSNPrs121918466
23andMers121918466
23andMe allrs121918466
SNP Nexus

SNPshotrs121918466
SNPdbers121918466
MSV3drs121918466
GWAS Ctlgrs121918466
Max Magnitude0
OMIM176876
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121918466(G;G)
Alt rs121918466(G;G)
Reference rs121918466(A;A)
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.112888220A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014268.5, RCV000033480.6, RCV000037641.3, RCV000157680.1,