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
RS121908575 BCS1L Health Risk Likely pathogenic Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome
RS121908576 BCS1L Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 1, BCS1L-related disorder
RS121908577 BCS1L Health Risk Pathogenic Pili torti-deafness syndrome, Leigh syndrome
RS121908578 BCS1L Health Risk Pathogenic/Likely pathogenic BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY, Mitochondrial complex III deficiency nuclear type 1
RS121908579 BCS1L Health Risk Pathogenic BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY, BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
RS121908580 BCS1L Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 1, Mitochondrial complex III deficiency nuclear type 1
RS121908581 BBS5 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome
RS121908582 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5
RS121908583 DPM1 Health Risk Likely pathogenic Congenital disorder of glycosylation type 1E, DPM1-related disorder
RS121908584 GLRX5 Health Risk Pathogenic Sideroblastic anemia 3, Sideroblastic anemia 3
RS121908585 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Primary intracranial sarcoma
RS121908586 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS121908588 PDGFRA Health Risk Conflicting classifications of pathogenicity Polyps, multiple and recurrent inflammatory fibroid
RS121908589 PDGFRA Health Risk Pathogenic Polyps, multiple and recurrent inflammatory fibroid
RS121908590 KCNA5 Health Risk Pathogenic Atrial fibrillation, familial
RS121908592 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS121908593 KCNA5 Health Risk Pathogenic Atrial fibrillation, familial
RS121908594 MAP2K1 Health Risk Likely pathogenic Cardiofaciocutaneous syndrome 3, Cardio-facio-cutaneous syndrome
RS121908595 MAP2K1 Health Risk Pathogenic Cardiofaciocutaneous syndrome 3, Cardio-facio-cutaneous syndrome
RS121908596 MAP2K1 Health Risk Pathogenic Cardiofaciocutaneous syndrome 3, Cardio-facio-cutaneous syndrome
RS121908598 OTOF Health Risk Pathogenic Auditory neuropathy, autosomal recessive
RS121908602 ZFPM2 Health Risk Pathogenic/Likely pathogenic Diaphragmatic hernia 3, Diaphragmatic hernia 3
RS121908603 ZFPM2 Health Risk Conflicting classifications of pathogenicity Diaphragmatic hernia 3, Double outlet right ventricle
RS121908604 ZFPM2 Health Risk Pathogenic Diaphragmatic hernia 3, Diaphragmatic hernia 3
RS121908605 MOCS2 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS121908606 MOCS2 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS121908607 MOCS2 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS121908608 MOCS2 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS121908609 MOCS2 Health Risk Pathogenic/Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS121908610 CYP7B1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia
RS121908611 CYP7B1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 5A, Spastic paraplegia
RS121908612 CYP7B1 Health Risk Pathogenic Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia 5A
RS121908613 CYP7B1 Health Risk Pathogenic Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia
RS121908614 CYP7B1 Health Risk Pathogenic Hereditary spastic paraplegia 5A, Spastic paraplegia
RS121908616 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS121908617 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS121908618 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS121908619 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS121908620 CHST3 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS121908621 GNE Health Risk Pathogenic Sialuria, Inborn genetic diseases
RS121908622 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS121908623 GNE Health Risk Likely pathogenic Sialuria, Sialuria
RS121908625 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS121908626 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS121908627 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS121908628 GNE Health Risk Pathogenic GNE myopathy, GNE myopathy
RS121908629 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS121908630 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS121908632 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS121908633 GNE Health Risk Pathogenic GNE myopathy, GNE myopathy
RS121908634 GNE Health Risk Pathogenic GNE myopathy, GNE myopathy
RS121908635 PER2 Health Risk Pathogenic Advanced sleep phase syndrome 1, Advanced sleep phase syndrome 1
RS121908636 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS121908637 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS121908638 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS121908639 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS121908640 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS121908641 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS121908642 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS121908643 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS121908644 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS121908645 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS121908646 ASS1 Health Risk Pathogenic Citrullinemia, mild
RS121908647 ASS1 Health Risk Pathogenic Citrullinemia, mild
RS121908648 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia
RS121908649 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia 1
RS121908650 WNT4 Health Risk Pathogenic Mullerian aplasia and hyperandrogenism, Mullerian aplasia and hyperandrogenism
RS121908651 WNT4 Health Risk Pathogenic SERKAL syndrome, SERKAL syndrome
RS121908652 WNT4 Health Risk Pathogenic Mullerian aplasia and hyperandrogenism, Mullerian aplasia and hyperandrogenism
RS121908653 WNT4 Health Risk Pathogenic Mullerian aplasia and hyperandrogenism, Mullerian aplasia and hyperandrogenism
RS121908654 AURKC Health Risk Pathogenic Infertility associated with multi-tailed spermatozoa and excessive DNA, Infertility associated with multi-tailed spermatozoa and excessive DNA
RS121908655 TNFRSF11A Health Risk Pathogenic Autosomal recessive osteopetrosis 7, Autosomal recessive osteopetrosis 7
RS121908656 TNFRSF11A Health Risk Pathogenic Autosomal recessive osteopetrosis 7, Autosomal recessive osteopetrosis 7
RS121908658 TNFRSF11A Health Risk Pathogenic Autosomal recessive osteopetrosis 7, Autosomal recessive osteopetrosis 7
RS121908659 TNFRSF11A Health Risk Pathogenic Autosomal recessive osteopetrosis 7, Autosomal recessive osteopetrosis 7
RS121908660 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS121908661 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, 8 conditions
RS121908662 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS121908663 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS121908664 LRP5 Health Risk Pathogenic/Likely pathogenic Osteoporosis with pseudoglioma, Exudative vitreoretinopathy 1
RS121908665 LRP5 Health Risk Conflicting classifications of pathogenicity Osteoporosis with pseudoglioma, Osteogenesis imperfecta
RS121908666 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS121908667 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS121908668 LRP5 Health Risk Likely pathogenic High bone mass, Disorder of bone
RS121908669 LRP5 Health Risk Pathogenic Autosomal dominant osteopetrosis 1, Autosomal dominant osteopetrosis 1
RS121908670 LRP5 Health Risk Pathogenic/Likely pathogenic Autosomal dominant osteopetrosis 1, Worth disease
RS121908671 LRP5 Health Risk Pathogenic Worth disease, Autosomal dominant osteopetrosis 1
RS121908672 LRP5 Health Risk Pathogenic Worth disease, Worth disease
RS121908673 LRP5 Health Risk Pathogenic Autosomal dominant osteopetrosis 1, Autosomal dominant osteopetrosis 1
RS121908674 LRP5 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 4, autosomal recessive
RS121908675 LARGE1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy type B6, LARGE1-Related Disorders
RS121908676 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS121908678 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS121908679 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Autoinflammatory syndrome
RS121908680 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Iron accumulation in brain
RS121908681 PLA2G6 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 2B, Congenital cerebellar hypoplasia
RS121908682 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS121908683 PLA2G6 Health Risk Pathogenic/Likely pathogenic Karak syndrome, Neurodegeneration with brain iron accumulation
RS121908685 PLA2G6 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 2B, Infantile neuroaxonal dystrophy
RS121908686 PLA2G6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy
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