COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
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: rs121912882
rs121912882
0.851 0.280 12 47979534 missense variant G/A snv
CUI: C0027092
Disease: Myopia
Myopia
Eye Diseases 0.700 0
dbSNP: rs1635529
rs1635529
0.925 0.040 12 48001319 intron variant T/G snv 0.78
CUI: C0027092
Disease: Myopia
Myopia
Eye Diseases 0.010 1.000 1 2012 2012