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rs121918458

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918458(A;A)
Make rs121918458(A;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112489080
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918458
ebirs121918458
HLIrs121918458
Exacrs121918458
Varsomers121918458
Maprs121918458
PheGenIrs121918458
hapmaprs121918458
1000 genomesrs121918458
hgdprs121918458
ensemblrs121918458
gopubmedrs121918458
geneviewrs121918458
scholarrs121918458
googlers121918458
pharmgkbrs121918458
gwascentralrs121918458
openSNPrs121918458
23andMers121918458
23andMe allrs121918458
SNP Nexus

SNPshotrs121918458
SNPdbers121918458
MSV3drs121918458
GWAS Ctlgrs121918458
Max Magnitude0
OMIM176876
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918458(A,G;A,G)
Alt rs121918458(A,G;A,G)
Reference rs121918458(T;T)
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.112926884T>A; NC_000012.11:g.112926884T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014260.28, RCV000033543.4, RCV000156995.1, RCV000212897.1, RCV000033542.5, RCV000212898.1,