Gene: HTRA2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767006508
rs767006508
HTRA2 ; LOXL3
0.700 GeneticVariation UNIPROT Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. 27696117

2017
dbSNP: rs767006508
rs767006508
HTRA2 ; LOXL3
0.700 GeneticVariation UNIPROT Deficiency of HTRA2Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria. 27208207

2016