Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906889
rs387906889
AFG3L2 ; TUBB6 ; LOC107985154
0.800 GeneticVariation UNIPROT Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. 22022284

2011
dbSNP: rs387906889
rs387906889
AFG3L2 ; TUBB6 ; LOC107985154
C 0.800 CausalMutation CLINVAR

dbSNP: rs727502823
rs727502823
AFG3L2 ; TUBB6 ; LOC107985154
T 0.700 CausalMutation CLINVAR

dbSNP: rs764254189
rs764254189
AFG3L2 ; TUBB6 ; LOC107985154
C 0.700 GeneticVariation CLINVAR