COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 51; N. variants: 57
Disease: RETINAL ARTERIES, TORTUOSITY OF ×
Source: CURATED ×
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: rs267606743
rs267606743 		1.000 0.160 13 110192222 missense variant C/T snv
CUI: C1867327
Disease: RETINAL ARTERIES, TORTUOSITY OF
RETINAL ARTERIES, TORTUOSITY OF 		0.800 0