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rs121918460

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918460(G;G)
Make rs121918460(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450364
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918460
ebirs121918460
HLIrs121918460
Exacrs121918460
Varsomers121918460
Maprs121918460
PheGenIrs121918460
hapmaprs121918460
1000 genomesrs121918460
hgdprs121918460
ensemblrs121918460
gopubmedrs121918460
geneviewrs121918460
scholarrs121918460
googlers121918460
pharmgkbrs121918460
gwascentralrs121918460
openSNPrs121918460
23andMers121918460
23andMe allrs121918460
SNP Nexus

SNPshotrs121918460
SNPdbers121918460
MSV3drs121918460
GWAS Ctlgrs121918460
Max Magnitude0
OMIM176876
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918460(A,G;A,G)
Alt rs121918460(A,G;A,G)
Reference rs121918460(T;T)
Significance Pathogenic
Disease Rasopathy Noonan syndrome 1 not provided Noonan syndrome
Variation info
Gene PTPN11
CLNDBN Rasopathy Noonan syndrome 1 not provided Noonan syndrome
Reversed 0
HGVS NC_000012.11:g.112888168T>A; NC_000012.11:g.112888168T>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000033467.2, RCV000014257.23, RCV000033466.6, RCV000153794.4, RCV000156993.1,