| RS72656307 |
COL1A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Prostate cancer, Osteogenesis imperfecta type I |
| RS72656314 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72656319 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72656320 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72656321 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72656323 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72656324 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72656326 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72656327 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72656329 |
COL1A1
|
Health Risk |
Likely pathogenic |
— |
| RS72656330 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72656331 |
COL1A1
|
Health Risk |
Pathogenic |
OSTEOGENESIS IMPERFECTA, TYPE IIC |
| RS72656332 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72656336 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72656337 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72656338 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72656340 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72656341 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72656343 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type 2, thin-bone |
| RS72656344 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72656348 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72656349 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type I, COL1A1-related disorder |
| RS72656351 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae |
| RS72656352 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72656353 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type I |
| RS72656354 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, cardiac valvular type |
| RS72656355 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, arthrochalasia type |
| RS72656356 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, arthrochalasia type |
| RS72656357 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, arthrochalasia type |
| RS72656358 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72656359 |
COL1A2
|
Health Risk |
Pathogenic |
— |
| RS72656360 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72656362 |
COL1A2
|
Health Risk |
Pathogenic |
-, - |
| RS72656363 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72656364 |
COL1A2
|
Health Risk |
Pathogenic |
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, Ehlers-Danlos syndrome |
| RS72656365 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72656367 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, cardiac valvular type |
| RS72656369 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72656370 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Postmenopausal osteoporosis |
| RS72656375 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72656376 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72656377 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72656378 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72656381 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72656382 |
COL1A2
|
Health Risk |
Pathogenic |
— |
| RS72656385 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72656386 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72656387 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 |
| RS72656389 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta type I |
| RS72656390 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72656391 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72656392 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72656394 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta with normal sclerae |
| RS72656395 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72656396 |
COL1A2
|
Health Risk |
Pathogenic |
— |
| RS72656400 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72656402 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type I |
| RS72657304 |
DNAH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS72657308 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS72657309 |
DNAH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia 7, Primary ciliary dyskinesia |
| RS72657312 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS72657316 |
DNAH11
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS72657321 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS72657326 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS72657333 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS72657334 |
DNAH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS72657342 |
DNAH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS72657354 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS72657362 |
DNAH11
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS72657364 |
DNAH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS72657366 |
DNAH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS72657389 |
DNAH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS72657393 |
DNAH11
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS72657550 |
SCNN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism |
| RS72657556 |
SCNN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS72657689 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum |
| RS72657692 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72657694 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72657695 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72657700 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72657702 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72657933 |
COL4A2
|
Health Risk |
Conflicting classifications of pathogenicity |
Porencephaly 2, COL4A2-related disorder |
| RS72658103 |
COL1A2
|
Health Risk |
Pathogenic |
— |
| RS72658104 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658105 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658106 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72658108 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72658110 |
COL1A2
|
Health Risk |
Pathogenic |
— |
| RS72658112 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72658113 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658116 |
COL1A2
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72658117 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72658118 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658119 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72658120 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72658121 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658122 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta type I |
| RS72658125 |
COL1A2
|
Health Risk |
Likely pathogenic |
6 conditions, Osteogenesis imperfecta |
| RS72658126 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658127 |
COL1A2
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Osteogenesis imperfecta with normal sclerae |