Gene: CYP2U1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514513
rs397514513
CYP2U1 ; LOC107986298
T 0.700 GeneticVariation CLINVAR

dbSNP: rs759033144
rs759033144
CYP2U1 ; LOC107986298
A 0.700 CausalMutation CLINVAR

dbSNP: rs772400670
rs772400670
CYP2U1 ; LOC107986298
0.010 GeneticVariation BEFREE We report three patients in a consanguineous family harboring the novel homozygous c.1168C>T (p.R390*) in SPG56/CYP2U1, and showing a pigmentary degenerative maculopathy associated with progressive spastic paraplegia. 26914923

2016