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: rs1554397369
rs1554397369
1.000 0.120 7 94418526 missense variant G/T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs1562906570
rs1562906570
1.000 0.120 7 94424427 missense variant G/T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922159
rs193922159
1.000 0.120 7 94410478 missense variant C/A;G snv 5.1E-05
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922162
rs193922162
1.000 0.120 7 94417733 missense variant G/A snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922165
rs193922165
1.000 0.120 7 94425655 missense variant G/A snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922166
rs193922166
1.000 0.120 7 94427004 splice acceptor variant A/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922167
rs193922167
1.000 0.120 7 94427639 frameshift variant C/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922168
rs193922168
1.000 0.120 7 94427714 missense variant G/C snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922173
rs193922173
1.000 0.120 7 94408220 missense variant G/A snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs193922175
rs193922175
1.000 0.120 7 94409374 inframe deletion GTG/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs72656387
rs72656387
0.882 0.120 7 94409367 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs72658154
rs72658154
1.000 0.120 7 94418518 missense variant G/A;T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs72658193
rs72658193
0.925 0.120 7 94423056 missense variant G/A snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs72659305
rs72659305
0.925 0.120 7 94425127 missense variant G/A snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs72659319
rs72659319
0.763 0.240 7 94426459 missense variant G/A;C snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs1555222973
rs1555222973
0.851 0.160 11 46312636 inframe deletion AAG/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs67815019
rs67815019
0.925 0.120 17 50187041 missense variant C/A;T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 1.000 2 2007 2016
dbSNP: rs193922139
rs193922139
0.925 0.120 17 50195227 splice region variant C/T snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 1.000 1 2015 2015
dbSNP: rs144751329
rs144751329
1.000 0.120 17 50194380 missense variant C/A;T snv 4.0E-06; 2.0E-04
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs1555572125
rs1555572125
1.000 0.120 17 50187975 frameshift variant T/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs1555572406
rs1555572406
1.000 0.120 17 50189203 frameshift variant CT/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs1567751388
rs1567751388
1.000 0.120 17 50185558 frameshift variant C/- del
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs1567753448
rs1567753448
1.000 0.120 17 50187121 missense variant C/A snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs1567761800
rs1567761800
1.000 0.120 17 50196500 missense variant C/G snv
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0
dbSNP: rs1567762262
rs1567762262
1.000 0.120 17 50197012 frameshift variant GT/- delins
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.700 0