Disease: Pancytopenia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878855337
rs878855337
Entrez Id: 219285
Gene Symbol: SAMD9L
SAMD9L
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