Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918468

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918468(A;A)
Make rs121918468(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112488444
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918468
ebirs121918468
HLIrs121918468
Exacrs121918468
Varsomers121918468
Maprs121918468
PheGenIrs121918468
hapmaprs121918468
1000 genomesrs121918468
hgdprs121918468
ensemblrs121918468
gopubmedrs121918468
geneviewrs121918468
scholarrs121918468
googlers121918468
pharmgkbrs121918468
gwascentralrs121918468
openSNPrs121918468
23andMers121918468
23andMe allrs121918468
SNP Nexus

SNPshotrs121918468
SNPdbers121918468
MSV3drs121918468
GWAS Ctlgrs121918468
Max Magnitude0
OMIM176876
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121918468(A,T;A,T)
Alt rs121918468(A,T;A,T)
Reference rs121918468(G;G)
Significance Pathogenic
Disease not provided Noonan syndrome with multiple lentigines LEOPARD syndrome 1
Variation info
Gene PTPN11
CLNDBN not provided Noonan syndrome with multiple lentigines LEOPARD syndrome 1
Reversed 0
HGVS NC_000012.11:g.112926248G>A; NC_000012.11:g.112926248G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033530.4, RCV000037611.4, RCV000055882.4, RCV000033529.4, RCV000037612.2,