| RS72653130 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS72653131 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72653133 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72653136 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72653137 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72653138 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72653139 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS72653140 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72653141 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta type I |
| RS72653142 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta, COL1A1-related disorder |
| RS72653143 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72653147 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72653150 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72653151 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72653152 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72653154 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72653155 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72653156 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72653160 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72653166 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72653167 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72653168 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72653169 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72653170 |
COL1A1
|
Health Risk |
Pathogenic |
Infantile cortical hyperostosis, Osteogenesis imperfecta type I |
| RS72653171 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72653172 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72653173 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta type I |
| RS72653175 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72653176 |
COL1A1
|
Health Risk |
Pathogenic |
— |
| RS72653177 |
COL1A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Osteogenesis imperfecta type I, Cardiovascular phenotype |
| RS72653178 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type III, Osteogenesis imperfecta type I |
| RS72653703 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653704 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653705 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653706 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653743 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653744 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653745 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653746 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653747 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653748 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653749 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653750 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum |
| RS72653751 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653754 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653755 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653756 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, ABCC6-related disorder |
| RS72653757 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653758 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653759 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653760 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653762 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653764 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653768 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653769 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, ABCC6-related disorder |
| RS72653771 |
ABCC6
|
Health Risk |
Pathogenic |
— |
| RS72653772 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653774 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum |
| RS72653776 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653777 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653780 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653781 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653782 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653783 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653784 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653785 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653786 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653787 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653788 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653789 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653790 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653792 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653793 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653794 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, ABCC6-related disorder |
| RS72653795 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653796 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72653797 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72653798 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72654357 |
SCNN1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS72654404 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS72654406 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS72654409 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72654422 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS72654423 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72654424 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS72654426 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS72654427 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, familial |
| RS72654428 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial hypobetalipoproteinemia 1, Hypercholesterolemia |
| RS72654430 |
APOB
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypercholesterolemia, autosomal dominant |
| RS72654794 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, COL1A1-related disorder |
| RS72654797 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72654799 |
COL1A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Osteogenesis imperfecta type I, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 |
| RS72654801 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72654802 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, COL1A1-related disorder |
| RS72655384 |
MRTFA
|
Health Risk |
Conflicting classifications of pathogenicity |
Gastric cancer, Gastric cancer |
| RS72655967 |
DNAH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS72655978 |
DNAH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS72655998 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS72656303 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS72656306 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |