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rs121918453

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918453(G;T)
Make rs121918453(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450394
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918453
ebirs121918453
HLIrs121918453
Exacrs121918453
Varsomers121918453
Maprs121918453
PheGenIrs121918453
hapmaprs121918453
1000 genomesrs121918453
hgdprs121918453
ensemblrs121918453
gopubmedrs121918453
geneviewrs121918453
scholarrs121918453
googlers121918453
pharmgkbrs121918453
gwascentralrs121918453
openSNPrs121918453
23andMers121918453
23andMe allrs121918453
SNP Nexus

SNPshotrs121918453
SNPdbers121918453
MSV3drs121918453
GWAS Ctlgrs121918453
Max Magnitude0
OMIM176876
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918453(A,C,T;A,C,T)
Alt rs121918453(A,C,T;A,C,T)
Reference rs121918453(G;G)
Significance Pathogenic
Disease Rasopathy not provided Noonan syndrome Noonan syndrome 1
Variation info
Gene PTPN11
CLNDBN Rasopathy not provided Noonan syndrome Noonan syndrome 1
Reversed 0
HGVS NC_000012.11:g.112888198G>A; NC_000012.11:g.112888198G>C; NC_000012.11:g.112888198G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000154367.2, RCV000033472.4, RCV000037635.2, RCV000014252.26, RCV000033471.6, RCV000157001.1, RCV000212890.1,