Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs193922137
rs193922137
1.000 0.120 17 50195958 missense variant C/A snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922138
rs193922138
1.000 0.120 17 50195296 missense variant G/C snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922140
rs193922140
1.000 0.120 17 50194419 missense variant C/G snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922141
rs193922141
1.000 0.120 17 50194141 frameshift variant T/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922143
rs193922143
1.000 0.120 17 50193003 frameshift variant A/- del
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922144
rs193922144
1.000 0.120 17 50191853 stop gained G/A snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922145
rs193922145
1.000 0.120 17 50191457 stop gained G/A snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922147
rs193922147
1.000 0.120 17 50190381 splice acceptor variant C/A;G snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922148
rs193922148
1.000 0.120 17 50190360 frameshift variant A/- del
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922149
rs193922149
0.925 0.120 17 50190328 frameshift variant G/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922150
rs193922150
1.000 0.120 17 50189878 missense variant C/T snv 2.5E-05 1.1E-04
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922151
rs193922151
0.925 0.120 17 50189521 frameshift variant A/- del
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922152
rs193922152
1.000 0.120 17 50189208 missense variant T/C snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922154
rs193922154
1.000 0.120 17 50199589 splice acceptor variant CT/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922155
rs193922155
1.000 0.120 17 50199329 splice acceptor variant T/C snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922157
rs193922157
1.000 0.120 17 50198459 stop gained C/A;T snv 8.0E-06
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922158
rs193922158
0.925 0.120 17 50197065 splice acceptor variant T/C snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs67507747
rs67507747
0.827 0.160 17 50194032 missense variant C/A;G;T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.710 1.000 0 2001 2001
dbSNP: rs72645323
rs72645323
0.925 0.120 17 50197027 missense variant C/T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs72645328
rs72645328
0.882 0.120 17 50196670 missense variant C/G;T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs72645357
rs72645357
0.776 0.240 17 50196163 missense variant C/T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs72648320
rs72648320
1.000 0.120 17 50195433 splice donor variant C/T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs72651620
rs72651620
0.925 0.120 17 50192807 frameshift variant GGGG/-;GGG delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs72651647
rs72651647
0.925 0.120 17 50191454 missense variant C/T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs72653173
rs72653173
0.925 0.120 17 50188765 stop gained G/A;C snv 4.0E-06
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0