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
RS587784285 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784286 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784287 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784288 PAFAH1B1 Health Risk Conflicting classifications of pathogenicity Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784289 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784290 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784291 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784292 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784293 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784294 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS587784295 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS587784299 PCDH19 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 9
RS587784300 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS587784302 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS587784304 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS587784308 PCNT Health Risk Pathogenic/Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS587784310 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS587784312 PCNT Health Risk Pathogenic/Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS587784318 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS587784319 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS587784320 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS587784321 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS587784322 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS587784325 PIK3R1 Health Risk Likely pathogenic SHORT syndrome, SHORT syndrome
RS587784326 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS587784327 PLA2G6 Health Risk Pathogenic Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS587784328 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS587784329 PLA2G6 Health Risk Pathogenic Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS587784330 PLA2G6 Health Risk Pathogenic/Likely pathogenic Iron accumulation in brain, Neurodegeneration with brain iron accumulation 2B
RS587784331 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, PLA2G6-associated neurodegeneration
RS587784332 PLA2G6 Health Risk Pathogenic Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS587784333 PLA2G6 Health Risk Pathogenic Iron accumulation in brain, Iron accumulation in brain
RS587784335 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS587784336 PLA2G6 Health Risk Pathogenic/Likely pathogenic Iron accumulation in brain, Autosomal recessive Parkinson disease 14
RS587784337 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, PLA2G6-associated neurodegeneration
RS587784338 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS587784339 PLA2G6 Health Risk Pathogenic Iron accumulation in brain, PLA2G6-associated neurodegeneration
RS587784340 PLA2G6 Health Risk Likely pathogenic Iron accumulation in brain, Iron accumulation in brain
RS587784341 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS587784343 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Iron accumulation in brain
RS587784346 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, PLA2G6-associated neurodegeneration
RS587784347 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS587784349 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, PLA2G6-associated neurodegeneration
RS587784350 PLA2G6 Health Risk Pathogenic/Likely pathogenic Iron accumulation in brain, Neurodegeneration with brain iron accumulation 2B
RS587784351 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS587784352 PLA2G6 Health Risk Pathogenic Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS587784353 PLA2G6 Health Risk Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B
RS587784354 PLA2G6 Health Risk Likely pathogenic Iron accumulation in brain, Iron accumulation in brain
RS587784355 PLA2G6 Health Risk Likely pathogenic Iron accumulation in brain, Iron accumulation in brain
RS587784356 PLA2G6 Health Risk Likely pathogenic Iron accumulation in brain, Iron accumulation in brain
RS587784357 PLA2G6 Health Risk Pathogenic Iron accumulation in brain, Iron accumulation in brain
RS587784359 PLA2G6 Health Risk Pathogenic/Likely pathogenic Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS587784360 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, PLA2G6-associated neurodegeneration
RS587784361 PLA2G6 Health Risk Pathogenic/Likely pathogenic Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS587784362 PLA2G6 Health Risk Pathogenic Iron accumulation in brain, Iron accumulation in brain
RS587784363 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS587784364 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Iron accumulation in brain
RS587784365 PNKP Health Risk Pathogenic Microcephaly, seizures
RS587784366 PNKP Health Risk Pathogenic/Likely pathogenic Microcephaly, seizures
RS587784367 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS587784369 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS587784370 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS587784373 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related myopathy
RS587784374 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS587784375 RYR1 Health Risk Likely pathogenic —
RS587784376 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS587784379 RYR1 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita
RS587784380 SETBP1 Health Risk Conflicting classifications of pathogenicity Schinzel-Giedion syndrome, Schinzel-Giedion syndrome
RS587784381 SETBP1 Health Risk Conflicting classifications of pathogenicity Schinzel-Giedion syndrome, Inborn genetic diseases
RS587784382 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS587784383 SLC16A2 Health Risk Pathogenic/Likely pathogenic Allan-Herndon-Dudley syndrome, Decreased activity of the pyruvate dehydrogenase complex
RS587784384 SLC16A2 Health Risk Pathogenic/Likely pathogenic Allan-Herndon-Dudley syndrome, Inborn genetic diseases
RS587784386 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS587784388 SLC2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS587784390 SLC2A1 Health Risk Pathogenic/Likely pathogenic Encephalopathy due to GLUT1 deficiency, GLUT1 deficiency syndrome 1
RS587784391 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS587784393 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS587784394 SLC2A1 Health Risk Conflicting classifications of pathogenicity Encephalopathy due to GLUT1 deficiency, Dystonia 9
RS587784395 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS587784396 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS587784397 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, Seizure
RS587784398 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS587784399 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS587784403 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS587784404 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS587784405 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS587784406 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS587784407 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS587784408 SMC1A Health Risk Pathogenic/Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS587784409 SMC1A Health Risk Pathogenic/Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS587784410 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS587784412 SMC1A Health Risk Pathogenic/Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases
RS587784413 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS587784414 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS587784415 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS587784416 SMC1A Health Risk Pathogenic/Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS587784417 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS587784418 SMC1A Health Risk Pathogenic/Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS587784419 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS587784420 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
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