COL4A3, collagen type IV alpha 3 chain, 1285

N. diseases: 119; N. variants: 129
Disease: Alport Syndrome ×
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: rs1135401954
rs1135401954 		1.000 0.160 2 227266482 missense variant G/C snv
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs188942711
rs188942711 		0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases 0.010 1.000 1 2008 2008