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: rs1555507927
rs1555507927 		1.000 0.160 16 16157769 frameshift variant -/G ins
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs72664219
rs72664219 		1.000 0.160 16 16169820 frameshift variant -/G ins
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs72664205
rs72664205 		1.000 0.160 16 16203408 splice donor variant A/- del
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs72664223
rs72664223 		1.000 0.160 16 16221763 frameshift variant T/- del 4.1E-06
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs72664233
rs72664233 		0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs72664237
rs72664237 		1.000 0.160 16 16154732 frameshift variant G/- del 2.8E-05
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs1297171898
rs1297171898 		1.000 0.160 16 16157662 splice region variant TCTCTCCT/- delins
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs1555507903
rs1555507903 		1.000 0.160 16 16157716 frameshift variant -/GTCGGTATCTTAG delins
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs1555514467
rs1555514467 		1.000 0.160 16 16188897 frameshift variant AG/- delins
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs1555522983
rs1555522983 		1.000 0.160 16 16219833 frameshift variant -/C delins
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs72664216
rs72664216 		1.000 0.160 16 16203469 frameshift variant -/A delins
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
dbSNP: rs72664227
rs72664227 		0.925 0.200 16 16182875 frameshift variant C/-;CC delins 7.0E-06
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage 		Pathological Conditions, Signs and Symptoms; Eye Diseases 0.700 0
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