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

rs121918455

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918455(A;G)
Make rs121918455(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112477720
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918455
ebirs121918455
HLIrs121918455
Exacrs121918455
Varsomers121918455
Maprs121918455
PheGenIrs121918455
hapmaprs121918455
1000 genomesrs121918455
hgdprs121918455
ensemblrs121918455
gopubmedrs121918455
geneviewrs121918455
scholarrs121918455
googlers121918455
pharmgkbrs121918455
gwascentralrs121918455
openSNPrs121918455
23andMers121918455
23andMe allrs121918455
SNP Nexus

SNPshotrs121918455
SNPdbers121918455
MSV3drs121918455
GWAS Ctlgrs121918455
Max Magnitude0
OMIM176876
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918455(C,G;C,G)
Alt rs121918455(C,G;C,G)
Reference rs121918455(A;A)
Significance Pathogenic
Disease Rasopathy Noonan syndrome Noonan syndrome 1 not provided
Variation info
Gene PTPN11
CLNDBN Rasopathy Noonan syndrome Noonan syndrome 1 not provided
Reversed 0
HGVS NC_000012.11:g.112915524A>C; NC_000012.11:g.112915524A>G
CLNSRC University Hospital of Geneva OMIM Allelic Variant
CLNACC RCV000033517.4, RCV000037668.4, RCV000014255.31, RCV000033518.6, RCV000037669.4, RCV000157682.1,