COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Severe myopia ×
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: rs2269336
rs2269336 		1.000 0.040 17 50202995 intron variant G/A;C snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.030 0.667 3 2007 2011