Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918542
rs121918542 		0.882 0.040 2 232768790 missense variant G/A snv 4.0E-06
CUI: C1860405
Disease: Snowflake vitreoretinal degeneration
Snowflake vitreoretinal degeneration 		Eye Diseases 0.810 1.000 2 2008 2013
dbSNP: rs143607153
rs143607153 		1.000 2 232768552 missense variant A/G;T snv 6.4E-05
CUI: C3280062
Disease: LEBER CONGENITAL AMAUROSIS 16
LEBER CONGENITAL AMAUROSIS 16 		0.800 1.000 1 2011 2011
dbSNP: rs1801251
rs1801251 		1.000 0.040 2 232768750 missense variant G/A snv 0.35 0.31
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs387906858
rs387906858 		1.000 2 232768778 stop gained G/A;C snv 4.0E-06
CUI: C3280062
Disease: LEBER CONGENITAL AMAUROSIS 16
LEBER CONGENITAL AMAUROSIS 16 		0.700 0
dbSNP: rs786205550
rs786205550 		1.000 2 232771004 missense variant A/G snv 7.0E-06
CUI: C3280062
Disease: LEBER CONGENITAL AMAUROSIS 16
LEBER CONGENITAL AMAUROSIS 16 		0.700 0
dbSNP: rs863224884
rs863224884 		0.925 0.040 2 232770905 missense variant G/A snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs863224884
rs863224884 		0.925 0.040 2 232770905 missense variant G/A snv
CUI: C3280062
Disease: LEBER CONGENITAL AMAUROSIS 16
LEBER CONGENITAL AMAUROSIS 16 		0.700 0
dbSNP: rs869320631
rs869320631 		1.000 2 232771205 stop gained C/T snv
CUI: C3280062
Disease: LEBER CONGENITAL AMAUROSIS 16
LEBER CONGENITAL AMAUROSIS 16 		0.700 0
dbSNP: rs121918542
rs121918542 		0.882 0.040 2 232768790 missense variant G/A snv 4.0E-06
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.020 1.000 2 2008 2013
dbSNP: rs121918542
rs121918542 		0.882 0.040 2 232768790 missense variant G/A snv 4.0E-06
CUI: C0155366
Disease: Vitreous degeneration
Vitreous degeneration 		Eye Diseases 0.010 1.000 1 2013 2013