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
RS1601923388 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601923578 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601923813 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601924055 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1601924111 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601924184 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601925213 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Inborn genetic diseases
RS1601926125 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601926772 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1601927180 ACO2 Health Risk Pathogenic/Likely pathogenic Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS1601931052 RPGR Health Risk Pathogenic Retinitis pigmentosa, Primary ciliary dyskinesia
RS1601932069 USP27X Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1601935630 DEPDC5 Health Risk Likely pathogenic —
RS1601936467 ACO2 Health Risk Pathogenic Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS1601938489 CYB5R3 Health Risk Pathogenic Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase
RS1601938682 ACO2 Health Risk Likely pathogenic —
RS1601940608 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601943088 CYB5R3 Health Risk Pathogenic METHEMOGLOBINEMIA, TYPE I
RS1601943227 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601943268 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1601943325 RPGR Health Risk Pathogenic Retinitis pigmentosa, Primary ciliary dyskinesia
RS1601943462 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601945599 ARX Health Risk Likely pathogenic Corpus callosum agenesis-abnormal genitalia syndrome, Corpus callosum agenesis-abnormal genitalia syndrome
RS1601945626 ARX Health Risk Pathogenic Intellectual disability, X-linked
RS1601945655 ARX Health Risk Pathogenic Intellectual disability, X-linked
RS1601946139 ANOS1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism
RS1601946481 ARX Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1601946492 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS1601946502 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS1601946658 ARX Health Risk Pathogenic —
RS1601947074 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601948418 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS1601948603 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS1601949558 ARX Health Risk Pathogenic Abnormal synaptic transmission, Abnormal synaptic transmission
RS1601950543 ADGRG2 Health Risk Pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1601950553 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS1601951595 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS1601951704 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601952572 CNKSR2 Health Risk Likely pathogenic —
RS1601953552 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS1601953661 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS1601954686 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS1601957478 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS1601961064 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Primary ciliary dyskinesia
RS1601961173 RPGR Health Risk Pathogenic —
RS1601963938 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1601965037 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS1601968978 TRMU Health Risk Pathogenic —
RS1601969230 AIRE Health Risk Likely pathogenic —
RS1601969308 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1601969933 DEPDC5 Health Risk Likely pathogenic —
RS1601970168 DEPDC5 Health Risk Pathogenic/Likely pathogenic Familial focal epilepsy with variable foci, Epilepsy
RS1601970640 PCNT Health Risk Pathogenic —
RS1601970824 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1601972255 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 3
RS1601972449 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, X-linked cone-rod dystrophy 1
RS1601974881 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1601975780 TANGO2 Health Risk Pathogenic —
RS1601976527 FANCB Health Risk Pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS1601976655 FANCB Health Risk Pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS1601977105 TRMU Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS1601977379 FANCB Health Risk Pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS1601977844 FANCB Health Risk Pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS1601977912 FANCB Health Risk Pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS1601978817 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601978823 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601978925 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601978991 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601982474 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1601982516 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1601982532 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Primary ciliary dyskinesia
RS1601982595 RPGR Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy, RPGR-related disorder
RS1601988004 ANOS1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS1602005062 FANCB Health Risk Pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS1602005335 FANCB Health Risk Pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS1602005463 FANCB Health Risk Pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS1602006627 FANCB Health Risk Pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS1602006737 FANCB Health Risk Pathogenic Fanconi anemia complementation group B, Fanconi anemia complementation group B
RS1602010382 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1602013845 CNKSR2 Health Risk Pathogenic Intellectual disability, X-linked
RS1602014500 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, OTC-related disorder
RS1602022675 MLC1 Health Risk Likely pathogenic —
RS1602029522 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1602029533 OTC Health Risk Pathogenic —
RS1602033095 OTC Health Risk Likely pathogenic —
RS1602037634 PCNT Health Risk Likely pathogenic —
RS1602041478 EIF2S3 Health Risk Likely pathogenic MEHMO syndrome, MEHMO syndrome
RS1602043738 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS1602048728 FTSJ1 Health Risk Pathogenic Intellectual disability, X-linked 9
RS1602048836 FTSJ1 Health Risk Pathogenic Intellectual disability, X-linked 9
RS1602049346 MLC1 Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts
RS1602050730 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS1602051017 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1602056443 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1602057157 PLA2G6 Health Risk Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1602063709 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1602067592 AMER1 Health Risk Pathogenic/Likely pathogenic Cleft palate, Cleft palate
RS1602067633 AMER1 Health Risk Likely pathogenic Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
RS1602067874 AMER1 Health Risk Pathogenic —
RS1602068260 AMER1 Health Risk Pathogenic Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
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