ABCC6, ATP binding cassette subfamily C member 6, 368

N. diseases: 181; N. variants: 320
Disease: Retinal Hemorrhage ×
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: rs114303883
rs114303883 		1.000 0.160 16 16182534 stop gained C/A;T snv 9.1E-05 4.2E-05
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs1187315015
rs1187315015 		1.000 0.160 16 16214323 splice donor variant C/T snv 2.6E-05 3.5E-05
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs1192373126
rs1192373126 		1.000 0.160 16 16178965 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs1333662666
rs1333662666 		1.000 0.160 16 16150640 stop gained C/A;T snv 4.0E-06
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs1438851867
rs1438851867 		1.000 0.160 16 16182931 splice acceptor variant C/G;T snv 4.0E-06
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs1555506740
rs1555506740 		1.000 0.160 16 16150774 splice acceptor variant T/G snv
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs1555508604
rs1555508604 		0.925 0.200 16 16161437 splice donor variant C/T snv
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs1555512484
rs1555512484 		1.000 0.160 16 16178955 missense variant A/G snv
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs1555513073
rs1555513073 		1.000 0.160 16 16182429 missense variant T/G snv
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs28939701
rs28939701 		0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs28939702
rs28939702 		0.851 0.320 16 16154899 missense variant G/A;T snv 8.2E-05
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs60791294
rs60791294 		0.882 0.280 16 16163086 missense variant C/G;T snv 7.6E-05
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs63749794
rs63749794 		0.925 0.160 16 16163159 missense variant G/A snv 9.2E-05 4.2E-05
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs63749796
rs63749796 		0.925 0.200 16 16159505 missense variant C/G snv
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs63749856
rs63749856 		0.851 0.200 16 16155010 missense variant C/T snv 4.8E-05 2.8E-05
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs63749998
rs63749998 		1.000 0.160 16 16163119 missense variant A/G snv 1.4E-05
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs63750125
rs63750125 		1.000 0.160 16 16159541 missense variant G/T snv
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 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: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 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: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs63750414
rs63750414 		0.925 0.200 16 16154910 missense variant A/G;T snv
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 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: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs63750457
rs63750457 		0.925 0.200 16 16163008 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs63750459
rs63750459 		0.851 0.320 16 16163110 missense variant G/A snv 6.8E-05 6.3E-05
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs63750608
rs63750608 		1.000 0.160 16 16154889 missense variant A/G snv 8.2E-06 1.4E-05
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 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: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0