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rs121918463

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918463(C;C)
Make rs121918463(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112477651
GenePTPN11
is asnp
is mentioned by
dbSNPrs121918463
ebirs121918463
HLIrs121918463
Exacrs121918463
Varsomers121918463
Maprs121918463
PheGenIrs121918463
hapmaprs121918463
1000 genomesrs121918463
hgdprs121918463
ensemblrs121918463
gopubmedrs121918463
geneviewrs121918463
scholarrs121918463
googlers121918463
pharmgkbrs121918463
gwascentralrs121918463
openSNPrs121918463
23andMers121918463
23andMe allrs121918463
SNP Nexus

SNPshotrs121918463
SNPdbers121918463
MSV3drs121918463
GWAS Ctlgrs121918463
Max Magnitude0
OMIM176876
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121918463(A,C,G;A,C,G)
Alt rs121918463(A,C,G;A,C,G)
Reference rs121918463(T;T)
Significance Pathogenic
Disease not provided Noonan syndrome 1 Noonan syndrome Early T cell progenitor acute lymphoblastic leukemia Rasopathy
Variation info
Gene PTPN11
CLNDBN not provided Noonan syndrome 1 Noonan syndrome Early T cell progenitor acute lymphoblastic leukemia Rasopathy
Reversed 0
HGVS NC_000012.11:g.112915455T>A; NC_000012.11:g.112915455T>C; NC_000012.11:g.112915455T>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000159051.1, RCV000014263.21, RCV000037663.5, RCV000077862.6, RCV000190417.1, RCV000033513.6, RCV000037664.2, RCV000212895.1,