Source: CLINVAR

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: rs1057517686
rs1057517686
ATAD3A
0.827 0.120 1 1529299 missense variant C/T snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 1.000 1 2016 2016
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 1.000 1 2018 2018
dbSNP: rs374997012
rs374997012
TWNK ; MRPL43
0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 1.000 1 2016 2016
dbSNP: rs779027563
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 1.000 1 2017 2017
dbSNP: rs886037832
rs886037832
TWNK ; MRPL43
0.851 0.280 10 100988541 frameshift variant T/- delins
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 1.000 1 2016 2016
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs1020764190
rs1020764190
AFG3L2
0.925 0.120 18 12351330 missense variant G/A snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs1057518927
rs1057518927
OAT
0.925 0.080 10 124402952 missense variant T/C snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs1057519286
rs1057519286
MECR
0.882 0.080 1 29196234 stop gained A/C;G snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs1057519287
rs1057519287
MECR
0.882 0.080 1 29216612 frameshift variant TGAT/- delins
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs1184021143
rs1184021143
SLC25A46
0.925 0.080 5 110761295 missense variant G/A snv 4.0E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs139194636
rs139194636
WARS2
0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs145192716
rs145192716
MECR
0.882 0.080 1 29200574 missense variant G/A snv 6.4E-05 6.3E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs1555303073
rs1555303073
COL4A1
0.851 0.120 13 110176912 missense variant C/T snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs1555968941
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs34757931
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs387906799
rs387906799
KIF1A
0.742 0.200 2 240788118 missense variant G/A snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs61753219
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs672601363
rs672601363
KIF1A
0.851 0.080 2 240788109 missense variant C/T snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs672601366
rs672601366
KIF1A
0.851 0.120 2 240786339 missense variant C/G snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs672601367
rs672601367
KIF1A
0.851 0.080 2 240785066 missense variant T/G snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs672601369
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs672601370
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs672601371
rs672601371
KIF1A
0.925 0.080 2 240783791 missense variant A/T snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0
dbSNP: rs730882240
rs730882240
PIGQ
1.000 0.080 16 574693 stop gained C/T snv 2.1E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 0