SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
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
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