COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Blue sclera ×
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: rs1057518930
rs1057518930 		1.000 0.080 17 50197009 splice donor variant C/G snv
CUI: C0542514
Disease: Blue sclera
Blue sclera 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555572315
rs1555572315 		17 50188740 splice donor variant A/T snv
CUI: C0542514
Disease: Blue sclera
Blue sclera 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1567757138
rs1567757138 		1.000 0.120 17 50191446 frameshift variant A/- del
CUI: C0542514
Disease: Blue sclera
Blue sclera 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs66527965
rs66527965 		0.763 0.240 17 50193038 missense variant C/A;T snv
CUI: C0542514
Disease: Blue sclera
Blue sclera 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0