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
RS1057518719 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1057518721 BCAP31 Health Risk Pathogenic Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
RS1057518722 SLC45A2 Health Risk Pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS1057518723 AVPR2 Health Risk Likely pathogenic Diabetes insipidus, nephrogenic
RS1057518725 IRX5 Health Risk Pathogenic Craniofacial dysplasia - osteopenia syndrome, Craniofacial dysplasia - osteopenia syndrome
RS1057518727 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS1057518728 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS1057518729 PHF8 Health Risk Pathogenic Syndromic X-linked intellectual disability Siderius type, Syndromic X-linked intellectual disability Siderius type
RS1057518730 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS1057518731 SMARCD2 Health Risk Pathogenic Specific granule deficiency 2, Specific granule deficiency 1
RS1057518733 SMARCD2 Health Risk Pathogenic Specific granule deficiency 1, Autosomal recessive severe congenital neutropenia
RS1057518735 SSR4 Health Risk Conflicting classifications of pathogenicity SSR4-congenital disorder of glycosylation, Thyroid cancer
RS1057518736 SSR4 Health Risk Pathogenic SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation
RS1057518738 FOXE3 Health Risk Pathogenic Cataract 34 multiple types, Cataract 34 multiple types
RS1057518741 MIPEP Health Risk Conflicting classifications of pathogenicity Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Cardiomyopathy
RS1057518742 TUFM Health Risk Pathogenic Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4
RS1057518743 TUFM Health Risk Pathogenic Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4
RS1057518744 IL17RA Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
RS1057518745 IL17RA Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
RS1057518746 IL17RA Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
RS1057518747 IL17RA Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
RS1057518748 SLC25A46 Health Risk Pathogenic Neuropathy, hereditary motor and sensory
RS1057518749 SLC25A46 Health Risk Likely pathogenic Pontocerebellar hypoplasia, type 1E
RS1057518750 SLC25A46 Health Risk Pathogenic Pontocerebellar hypoplasia, type 1E
RS1057518751 IL17RC Health Risk Pathogenic Candidiasis, familial
RS1057518752 ACAD9 Health Risk Pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1057518753 CEP78 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1
RS1057518754 PYROXD1 Health Risk Pathogenic Myofibrillar myopathy 8, Myofibrillar myopathy 8
RS1057518755 PYROXD1 Health Risk Pathogenic Myofibrillar myopathy 8, Myofibrillar myopathy 8
RS1057518759 CDKL5 Health Risk Likely pathogenic Developmental delay, Epileptic encephalopathy
RS1057518760 KIF1A Health Risk Pathogenic Spastic paraplegia, Hyperreflexia
RS1057518761 PAX2 Health Risk Likely pathogenic Renal cyst, Renal cyst
RS1057518763 TYR Health Risk Pathogenic Ocular albinism, Oculocutaneous albinism type 1A
RS1057518764 DLX3 Health Risk Likely pathogenic Amelogenesis imperfecta, Peripheral pulmonary artery stenosis
RS1057518765 MITF Health Risk Likely pathogenic Waardenburg syndrome, Waardenburg syndrome
RS1057518766 COL18A1 Health Risk Conflicting classifications of pathogenicity Progressive neurodegenerative disease, Hereditary glaucoma
RS1057518767 ABCA4 Health Risk Pathogenic Central scotoma, Macular degeneration
RS1057518770 UBE3A Health Risk Pathogenic 6 conditions, 6 conditions
RS1057518772 KCNQ2 Health Risk Pathogenic Intellectual disability, Developmental and epileptic encephalopathy
RS1057518773 RYR1 Health Risk Conflicting classifications of pathogenicity Myopathy, RYR1-related disorder
RS1057518775 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemia, Atopic eczema
RS1057518776 DYNC1H1 Health Risk Likely pathogenic Global developmental delay, Hypotonia
RS1057518777 UBE3A Health Risk Likely pathogenic Intellectual disability, Developmental delay
RS1057518779 CACNA1A Health Risk Conflicting classifications of pathogenicity Spastic paraparesis, Cerebellar ataxia
RS1057518780 GJB1 Health Risk Likely pathogenic Pes cavus, Hammertoe
RS1057518781 MCOLN1 Health Risk Pathogenic 7 conditions, Mucolipidosis type IV
RS1057518782 MCOLN1 Health Risk Likely pathogenic 7 conditions, 7 conditions
RS1057518783 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1057518786 SYNGAP1 Health Risk Likely pathogenic Preauricular skin tag, Delayed speech and language development
RS1057518787 GPR143 Health Risk Pathogenic/Likely pathogenic Nystagmus, Ocular albinism
RS1057518788 DSG1 Health Risk Likely pathogenic Hereditary palmoplantar keratoderma, Bicuspid aortic valve
RS1057518789 CREBBP Health Risk Pathogenic Scoliosis, Global developmental delay
RS1057518791 TRPS1 Health Risk Likely pathogenic 7 conditions, 7 conditions
RS1057518792 NF1 Health Risk Pathogenic Cafe au lait spots, multiple
RS1057518793 NDP Health Risk Likely pathogenic Atrophia bulborum hereditaria, Retinal dystrophy
RS1057518794 ARX Health Risk Likely pathogenic Generalized hypotonia, Generalized hypotonia
RS1057518795 WWOX Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1057518796 SYNGAP1 Health Risk Likely pathogenic Cerebellar ataxia, Global developmental delay
RS1057518797 PKD2 Health Risk Pathogenic Polycystic kidney disease, Hypertensive disorder
RS1057518798 PPOX Health Risk Likely pathogenic Abnormal blistering of the skin, Porphyrinuria
RS1057518799 POGZ Health Risk Likely pathogenic 7 conditions, 7 conditions
RS1057518800 GRIN2B Health Risk Likely pathogenic Intellectual disability, Developmental delay
RS1057518801 SCN3A Health Risk Pathogenic Polymicrogyria, Developmental delay
RS1057518802 COL18A1 Health Risk Pathogenic Cataract, High myopia
RS1057518805 SYT2 Health Risk Likely pathogenic Muscle weakness, Respiratory distress
RS1057518806 HMBS Health Risk Likely pathogenic Elevated urinary delta-aminolevulinic acid, Acute episodes of neuropathic symptoms
RS1057518807 NF1 Health Risk Pathogenic Subcutaneous neurofibroma, Cafe au lait spots
RS1057518809 FBN1 Health Risk Likely pathogenic Aortic dissection, Polycystic liver disease 1
RS1057518810 SLC26A4 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS1057518811 DEAF1 Health Risk Conflicting classifications of pathogenicity 9 conditions, Intellectual disability-epilepsy-extrapyramidal syndrome
RS1057518812 FBN1 Health Risk Pathogenic 7 conditions, 7 conditions
RS1057518813 ERCC5 Health Risk Likely pathogenic 8 conditions, 8 conditions
RS1057518816 FOLR1 Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1057518817 NPR2 Health Risk Likely pathogenic Growth delay, Limb undergrowth
RS1057518821 SLC2A1 Health Risk Pathogenic Cerebellar ataxia, Global developmental delay
RS1057518822 CEP290 Health Risk Pathogenic/Likely pathogenic Blindness, Nystagmus
RS1057518826 USH2A Health Risk Pathogenic/Likely pathogenic Congenital sensorineural hearing impairment, Usher syndrome type 2A
RS1057518827 NLRP3 Health Risk Likely pathogenic Pericardial effusion, Pleural effusion
RS1057518828 GFAP Health Risk Likely pathogenic Scoliosis, Scoliosis
RS1057518829 CACNA1F Health Risk Pathogenic Amblyopia, Myopia
RS1057518830 STK11 Health Risk Likely pathogenic Periorbital hyperpigmentation, Intestinal polyposis
RS1057518832 ACO2 Health Risk Conflicting classifications of pathogenicity Neurodegeneration, Progressive microcephaly
RS1057518834 DMD Health Risk Likely pathogenic 9 conditions, Dilated cardiomyopathy 3B
RS1057518836 NDP Health Risk Likely pathogenic Persistent hyperplastic primary vitreous, High myopia
RS1057518837 ITGB3 Health Risk Pathogenic Abnormal bleeding, Prolonged bleeding time
RS1057518838 ITGB3 Health Risk Likely pathogenic Abnormal bleeding, Prolonged bleeding time
RS1057518839 MPZ Health Risk Likely pathogenic EMG: neuropathic changes, Limb muscle weakness
RS1057518840 OTOF Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS1057518841 TYRP1 Health Risk Likely pathogenic Ocular albinism, Ocular albinism
RS1057518842 NF1 Health Risk Pathogenic/Likely pathogenic Cafe-au-lait spot, Inguinal freckling
RS1057518843 GALC Health Risk Likely pathogenic 19 conditions, Galactosylceramide beta-galactosidase deficiency
RS1057518844 CREBBP Health Risk Pathogenic/Likely pathogenic Glaucoma, Thumb deformity
RS1057518845 SOX5 Health Risk Likely pathogenic Aplasia/Hypoplasia of the nails, Generalized hypotonia
RS1057518846 AAGAB Health Risk Likely pathogenic Palmoplantar keratoderma, Palmoplantar keratoderma
RS1057518848 TCF4 Health Risk Pathogenic Global developmental delay, Cerebral hypoplasia
RS1057518849 EHMT1 Health Risk Likely pathogenic Difficulty walking, Abnormal facial shape
RS1057518850 FMR1 Health Risk Likely pathogenic Intellectual disability, Autistic behavior
RS1057518851 TTN Health Risk Pathogenic Myopathy, Myopathy
RS1057518853 RPS6KA3 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Coffin-Lowry syndrome
RS1057518855 ANO5 Health Risk Likely pathogenic Myopathy, Gnathodiaphyseal dysplasia
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