Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs143319805
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		0.810 1.000 0 2016 2016
dbSNP: rs879255594
rs879255594
OPA1
1.000 0.240 3 193643436 missense variant G/A snv
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		0.800 1.000 3 2011 2015