CYP1B1-AS1, CYP1B1 antisense RNA 1, 285154

N. diseases: 12; N. variants: 43
Disease: GLAUCOMA 3, PRIMARY INFANTILE, B ×
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: rs28936700
rs28936700 		0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04
CUI: C1832977
Disease: GLAUCOMA 3, PRIMARY INFANTILE, B
GLAUCOMA 3, PRIMARY INFANTILE, B 		Eye Diseases 0.700 0
dbSNP: rs72549387
rs72549387 		0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04
CUI: C1832977
Disease: GLAUCOMA 3, PRIMARY INFANTILE, B
GLAUCOMA 3, PRIMARY INFANTILE, B 		Eye Diseases 0.700 0