Disease: Heterochromia iridis ×
Source: CLINVAR ×
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: rs104893746
rs104893746 		0.851 0.120 3 69956460 stop gained C/T snv
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs147682682
rs147682682 		1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1559749017
rs1559749017 		0.925 0.040 3 69956531 splice donor variant G/A snv
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1559751245
rs1559751245 		0.882 0.280 3 69959280 missense variant C/G snv
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0