Disease: Osteogenesis imperfecta type IV (disorder)
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs67682641
COL1A1
0.807 0.240 17 50194375 missense variant C/A;T snv 6
rs67507747
COL1A1
0.827 0.160 17 50194032 missense variant C/A;G;T snv 5
rs72653131
COL1A1
0.882 0.120 17 50190045 missense variant C/T snv 3
rs66501246
COL1A1
0.925 0.120 17 50195441 missense variant C/G;T snv 2