RARA, retinoic acid receptor alpha, 5914

N. diseases: 274; N. variants: 3
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: rs1403898124
rs1403898124 		1.000 0.080 17 40356141 missense variant G/A snv 6.5E-06
CUI: C0023524
Disease: Leukoencephalopathy, Progressive Multifocal
Leukoencephalopathy, Progressive Multifocal 		Infections; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs762374504
rs762374504 		1.000 0.080 17 40354432 missense variant C/T snv 4.0E-06
CUI: C0023524
Disease: Leukoencephalopathy, Progressive Multifocal
Leukoencephalopathy, Progressive Multifocal 		Infections; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs786205678
rs786205678 		0.925 0.080 17 40354320 missense variant C/T snv
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs786205678
rs786205678 		0.925 0.080 17 40354320 missense variant C/T snv
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2019 2019