rs878855337, SAMD9L

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myelocerebellar Disorder
CUI: C1327919
Disease: Myelocerebellar Disorder
0.800 GeneticVariation UNIPROT Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. 27259050 2016
Myelocerebellar Disorder
CUI: C1327919
Disease: Myelocerebellar Disorder
0.800 CausalMutation CLINVAR Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. 27259050 2016
Myelocerebellar Disorder
CUI: C1327919
Disease: Myelocerebellar Disorder
0.800 GeneticVariation CLINVAR
Pancytopenia
CUI: C0030312
Disease: Pancytopenia
0.010 GeneticVariation BEFREE By targeted sequencing of SAMD9L, we subsequently identified a different missense mutation (c.3587G>C, p.Cys1196Ser) in affected members of the first described family with AP syndrome, Li-AP. 27259050 2016