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: rs61750172
rs61750172
0.807 0.080 17 8014700 missense variant C/A;T snv 4.0E-06
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2
0.830 1.000 14 1998 2018
dbSNP: rs267606857
rs267606857
1.000 0.080 17 8015404 missense variant T/C snv
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2
0.800 1.000 14 1998 2018
dbSNP: rs61750173
rs61750173
0.827 0.080 17 8014701 missense variant G/A snv
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2
0.800 1.000 14 1998 2018
dbSNP: rs61749755
rs61749755
1.000 0.040 17 8009531 missense variant T/C snv 4.0E-06
Amaurosis congenita of Leber, type 1
0.800 1.000 9 1996 2018
dbSNP: rs61750168
rs61750168
0.851 0.080 17 8013918 missense variant C/G;T snv 4.0E-06; 1.5E-04
Amaurosis congenita of Leber, type 1
0.800 1.000 9 1996 2018
dbSNP: rs28933695
rs28933695
0.851 0.080 17 8014699 missense variant G/C snv
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2
0.710 1.000 14 1998 2018
dbSNP: rs201414567
rs201414567
1.000 0.040 17 8003211 missense variant C/T snv 1.0E-03 4.7E-04
Amaurosis congenita of Leber, type 1
0.700 1.000 9 1996 2018
dbSNP: rs375010731
rs375010731
1.000 0.040 17 8013967 missense variant T/C;G snv 4.0E-06; 4.0E-06
Amaurosis congenita of Leber, type 1
0.700 1.000 9 1996 2018
dbSNP: rs61749665
rs61749665
1.000 0.040 17 8003201 missense variant G/T snv 0.42 0.30
Amaurosis congenita of Leber, type 1
0.700 1.000 9 1996 2018
dbSNP: rs61749669
rs61749669
1.000 0.040 17 8003361 missense variant G/A snv
Amaurosis congenita of Leber, type 1
0.700 1.000 9 1996 2018
dbSNP: rs61749673
rs61749673
1.000 0.040 17 8004065 missense variant C/G;T snv 2.0E-05
Amaurosis congenita of Leber, type 1
0.700 1.000 9 1996 2018
dbSNP: rs61749675
rs61749675
0.882 0.080 17 8004104 missense variant T/C snv
Amaurosis congenita of Leber, type 1
0.700 1.000 9 1996 2018
dbSNP: rs61749677
rs61749677
1.000 0.040 17 8006420 missense variant G/A;T snv 1.7E-05
Amaurosis congenita of Leber, type 1
0.700 1.000 9 1996 2018
dbSNP: rs61749756
rs61749756
1.000 0.040 17 8009554 missense variant A/C;G snv 4.0E-06; 2.0E-05
Amaurosis congenita of Leber, type 1
0.700 1.000 9 1996 2018
dbSNP: rs61750162
rs61750162
1.000 0.040 17 8012472 missense variant G/A snv 3.8E-04 3.2E-04
Amaurosis congenita of Leber, type 1
0.700 1.000 9 1996 2018
dbSNP: rs61750171
rs61750171
1.000 0.040 17 8014000 missense variant G/A;T snv
Amaurosis congenita of Leber, type 1
0.700 1.000 9 1996 2018
dbSNP: rs61750176
rs61750176
1.000 0.040 17 8014760 missense variant C/A;T snv
Amaurosis congenita of Leber, type 1
0.700 1.000 9 1996 2018
dbSNP: rs61750182
rs61750182
1.000 0.040 17 8015419 missense variant T/C snv 8.0E-06 1.4E-05
Amaurosis congenita of Leber, type 1
0.700 1.000 9 1996 2018
dbSNP: rs1451501407
rs1451501407
1.000 0.040 17 8006628 missense variant G/A snv
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.700 0
dbSNP: rs565948960
rs565948960
1.000 0.040 17 8006648 missense variant C/T snv 7.4E-05
Amaurosis congenita of Leber, type 1
0.700 0