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: rs1057518843
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.700 0
dbSNP: rs1057518939
rs1057518939
VPS13B
1.000 0.040 8 99511424 frameshift variant A/- del
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.700 0
dbSNP: rs142285818
rs142285818
RHO
0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.700 0
dbSNP: rs1561416879
rs1561416879
ADGRV1
0.925 0.200 5 90629308 stop gained C/G snv
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.700 0
dbSNP: rs1564855725
rs1564855725
TPP1
0.882 0.160 11 6617621 splice region variant C/T snv
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.700 0
dbSNP: rs377274761
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.700 0
dbSNP: rs386834061
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.700 0
dbSNP: rs606231180
rs606231180
RPGR
0.925 0.080 X 38285902 frameshift variant CC/- delins
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.700 0
dbSNP: rs61750420
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.700 0
dbSNP: rs864309505
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.700 0