Disease: Osteogenesis Imperfecta
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs72654799
COL1A1
0.882 0.200 17 50188541 missense variant G/A;C snv 6.4E-05 3
rs780400029
LOC101448202 ; COL5A1
0.925 0.200 9 134835169 missense variant A/G snv 1.6E-04 3.5E-05 2
rs886440452
COL1A1
0.925 0.200 17 50189478 missense variant G/A snv 4.0E-06 2.8E-05 2