Source: BEFREE

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: rs28937899
rs28937899
OPA3
1.000 0.200 19 45553639 stop gained G/A snv
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		0.710 1.000 1 2008 2008
dbSNP: rs143319805
rs143319805
OPA1
0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		0.010 1.000 1 2014 2014
dbSNP: rs762180740
rs762180740
OPA3
1.000 0.200 19 45529184 stop gained G/A snv 9.6E-05
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		0.010 1.000 1 2008 2008