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: rs63749856
rs63749856
0.851 0.200 16 16155010 missense variant C/T snv 4.8E-05 2.8E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs63750146
rs63750146
0.925 0.200 16 16163084 missense variant C/T snv 5.2E-05 2.8E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs63750273
rs63750273
0.851 0.240 16 16157810 splice acceptor variant C/T snv 4.1E-05 1.4E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs63750410
rs63750410
0.882 0.240 16 16155007 missense variant C/G;T snv 6.0E-06; 1.2E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs63750414
rs63750414
0.925 0.200 16 16154910 missense variant A/G;T snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs63750427
rs63750427
0.882 0.200 16 16163158 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs63750428
rs63750428
0.925 0.200 16 16154767 missense variant G/A;T snv 4.9E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs63750457
rs63750457
0.925 0.200 16 16163008 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs63750459
rs63750459
0.851 0.320 16 16163110 missense variant G/A snv 6.8E-05 6.3E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs63750622
rs63750622
0.925 0.200 16 16154898 missense variant C/A;G;T snv 4.1E-06; 4.1E-06; 1.6E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs63750759
rs63750759
0.851 0.280 16 16154974 missense variant G/A;T snv 1.9E-04; 5.4E-06
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs63751001
rs63751001
0.790 0.240 16 16159555 missense variant C/T snv 2.8E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs63751215
rs63751215
0.882 0.240 16 16159556 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs63751241
rs63751241
0.882 0.280 16 16154638 missense variant C/T snv 4.0E-05 1.4E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs66492417
rs66492417
0.882 0.240 16 16178909 stop gained G/T snv
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs66864704
rs66864704
0.882 0.280 16 16188907 missense variant A/G snv 1.2E-04 3.6E-04
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs66913554
rs66913554
0.882 0.240 16 16154644 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs67470842
rs67470842
0.925 0.200 16 16182856 missense variant A/G snv 2.4E-05 7.0E-06
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs72650699
rs72650699
0.851 0.280 16 16202045 stop gained G/A snv 4.8E-05 1.8E-04
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs72650700
rs72650700
0.827 0.240 16 16190247 stop gained G/A;T snv 4.4E-05; 4.0E-06
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs72650702
rs72650702
0.925 0.200 16 16177531 stop gained G/T snv 8.0E-06
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs72653705
rs72653705
0.925 0.200 16 16165841 stop gained G/A snv 2.8E-05 3.5E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs72653706
rs72653706
0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs72653744
rs72653744
0.807 0.320 16 16163009 stop gained G/A snv 1.7E-04 1.2E-04
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs72653746
rs72653746
0.925 0.200 16 16159508 stop gained G/A snv 1.4E-05
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0