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: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs1057518822
rs1057518822
CEP290
1.000 0.080 12 88102888 stop gained G/A snv
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs1057518882
rs1057518882
CYTB ; ND5 ; ND6
MT 14598 missense variant T/C snv
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs111033272
rs111033272
USH2A
0.851 0.200 1 216325499 missense variant G/A;T snv 4.0E-06; 2.8E-05
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs137852834
rs137852834
CEP290
0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05
CUI: C0456909
Disease: Blindness
Blindness 		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: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs1553348960
rs1553348960
EFEMP1 ; LOC112268416
0.882 0.080 2 55870851 missense variant A/G snv
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
0.790 0.160 6 78946061 frameshift variant A/- delins
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs376493409
rs376493409
CEP290
0.742 0.280 12 88083161 stop gained G/A;T snv 7.0E-05
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs539612316
rs539612316
ALMS1
0.925 0.120 2 73449346 stop gained T/A snv 2.0E-05 1.4E-05
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs61750654
rs61750654
ABCA4
0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C0456909
Disease: Blindness
Blindness 		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: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs730882241
rs730882241
ARV1
1.000 1 230995876 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs753611141
rs753611141
PMPCA
0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs768643552
rs768643552
PMPCA
0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs80358284
rs80358284
FZD4 ; PRSS23
0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs886043303
rs886043303
CEP290
0.851 0.200 12 88120121 frameshift variant CTCT/- delins 7.0E-06
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0