| RS72658129 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72658134 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72658135 |
COL1A2
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type III |
| RS72658137 |
COL1A2
|
Health Risk |
Pathogenic |
— |
| RS72658140 |
COL1A2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72658141 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72658142 |
COL1A2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72658143 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658145 |
COL1A2
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658147 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Collagen type 1 disorder, Collagen type 1 disorder |
| RS72658150 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta |
| RS72658151 |
COL1A2
|
Health Risk |
Pathogenic |
— |
| RS72658152 |
COL1A2
|
Health Risk |
Pathogenic |
Postmenopausal osteoporosis, Ehlers-Danlos syndrome |
| RS72658154 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta type I |
| RS72658157 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72658158 |
COL1A2
|
Health Risk |
Likely pathogenic |
COL1A2-related disorder, COL1A2-related disorder |
| RS72658159 |
COL1A2
|
Health Risk |
Pathogenic |
— |
| RS72658160 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72658161 |
COL1A2
|
Health Risk |
Pathogenic |
— |
| RS72658162 |
COL1A2
|
Health Risk |
Likely pathogenic |
— |
| RS72658163 |
COL1A2
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, atypical |
| RS72658164 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72658167 |
COL1A2
|
Health Risk |
Likely pathogenic |
— |
| RS72658168 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658169 |
COL1A2
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type III |
| RS72658171 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72658173 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658174 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658176 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Ehlers-Danlos syndrome |
| RS72658177 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72658178 |
COL1A2
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS72658179 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72658180 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658181 |
COL1A2
|
Health Risk |
Pathogenic |
— |
| RS72658182 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72658183 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta type III |
| RS72658184 |
COL1A2
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72658185 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72658186 |
COL1A2
|
Health Risk |
Pathogenic |
— |
| RS72658187 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658189 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658190 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72658193 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS72658194 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72658196 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658197 |
COL1A2
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72658198 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72658200 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta |
| RS72658201 |
COL1A2
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72658810 |
DNAH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS72658814 |
DNAH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Male infertility |
| RS72658817 |
DNAH11
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS72658819 |
DNAH11
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7 |
| RS72658823 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS72658835 |
DNAH11
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS72658839 |
DNAH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS72658855 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72658858 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72658864 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72658870 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72658880 |
LDLR
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72659303 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72659304 |
COL1A2
|
Health Risk |
Pathogenic |
COL1A2-related disorder, Ehlers-Danlos syndrome |
| RS72659305 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS72659306 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72659307 |
COL1A2
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72659308 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72659309 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72659310 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72659312 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72659319 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72659322 |
COL1A2
|
Health Risk |
Pathogenic |
— |
| RS72659323 |
COL1A2
|
Health Risk |
Pathogenic |
— |
| RS72659324 |
COL1A2
|
Health Risk |
Pathogenic |
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 |
| RS72659325 |
COL1A2
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72659326 |
COL1A2
|
Health Risk |
Likely pathogenic |
— |
| RS72659327 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72659331 |
COL1A2
|
Health Risk |
Pathogenic |
— |
| RS72659332 |
COL1A2
|
Health Risk |
Likely pathogenic |
Dentinogenesis imperfecta, Ehlers-Danlos syndrome |
| RS72659335 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72659336 |
COL1A2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72659337 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72659338 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type III |
| RS72659340 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS72659342 |
COL1A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type III, Ehlers-Danlos syndrome |
| RS72659343 |
COL1A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, cardiac valvular type |
| RS72659345 |
COL1A2
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type III |
| RS72659347 |
P3H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8 |
| RS72659348 |
P3H1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8 |
| RS72659349 |
P3H1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8 |
| RS72659350 |
P3H1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8 |
| RS72659351 |
P3H1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type 8, Osteogenesis imperfecta |
| RS72659352 |
P3H1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8 |
| RS72659353 |
P3H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type 8, P3H1-related disorder |
| RS72659354 |
P3H1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8 |
| RS72659355 |
P3H1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8 |
| RS72659356 |
P3H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis Imperfecta, Recessive |
| RS72659357 |
CRTAP
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type 7, Osteogenesis imperfecta |
| RS72659359 |
CRTAP
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7 |
| RS72659360 |
CRTAP
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type 7, CRTAP-related disorder |