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rs121918461

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918461(A;G)
Make rs121918461(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450362
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918461
ebirs121918461
HLIrs121918461
Exacrs121918461
Varsomers121918461
Maprs121918461
PheGenIrs121918461
hapmaprs121918461
1000 genomesrs121918461
hgdprs121918461
ensemblrs121918461
gopubmedrs121918461
geneviewrs121918461
scholarrs121918461
googlers121918461
pharmgkbrs121918461
gwascentralrs121918461
openSNPrs121918461
23andMers121918461
23andMe allrs121918461
SNP Nexus

SNPshotrs121918461
SNPdbers121918461
MSV3drs121918461
GWAS Ctlgrs121918461
Max Magnitude0
OMIM176876
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918461(C,G,T;C,G,T)
Alt rs121918461(C,G,T;C,G,T)
Reference rs121918461(A;A)
Significance Pathogenic
Disease Noonan syndrome Noonan syndrome 1 Rasopathy not provided
Variation info
Gene PTPN11
CLNDBN Noonan syndrome Noonan syndrome 1 Rasopathy not provided
Reversed 0
HGVS NC_000012.11:g.112888166A>C; NC_000012.11:g.112888166A>G; NC_000012.11:g.112888166A>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000156008.1, RCV000014258.27, RCV000033464.5, RCV000077856.5, RCV000156984.1, RCV000033465.2,