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
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
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