SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS879253736 HELLS Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4
RS879253737 HELLS Health Risk Likely pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4
RS879253738 CDCA7 Health Risk Likely pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 3, Immunodeficiency-centromeric instability-facial anomalies syndrome 3
RS879253740 NPC2 Health Risk Pathogenic Niemann-Pick disease, type C2
RS879253741 GJB2 Health Risk Pathogenic Palmoplantar keratoderma-deafness syndrome, Palmoplantar keratoderma-deafness syndrome
RS879253742 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS879253743 NPAS2 Health Risk Likely pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS879253744 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia
RS879253745 ARID1B Health Risk Pathogenic 6 conditions, 6 conditions
RS879253746 ARID1B Health Risk Pathogenic 6 conditions, Coffin-Siris syndrome 1
RS879253747 ARID1B Health Risk Pathogenic 6 conditions, 6 conditions
RS879253748 GABRA1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 19
RS879253749 KRT25 Health Risk Pathogenic Autosomal Recessive Hypotrichosis with Woolly Hair, Wooly hair
RS879253750 CSF3R Health Risk Likely pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS879253751 MME Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS879253752 MME Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2T, Peripheral neuropathy
RS879253753 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS879253754 NKX2-5 Health Risk Likely pathogenic Atrial septal defect 7, Atrial septal defect 7
RS879253755 LRSAM1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS879253756 KMT2A Health Risk Conflicting classifications of pathogenicity Bilateral ptosis, Atypical behavior
RS879253757 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS879253758 TPM1 Health Risk Likely pathogenic Effort-induced polymorphic ventricular tachycardia, Effort-induced polymorphic ventricular tachycardia
RS879253760 GRIN2A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Landau-Kleffner syndrome
RS879253762 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS879253763 SLC39A14 Health Risk Pathogenic Hypermanganesemia with dystonia 2, Hypermanganesemia with dystonia 2
RS879253764 SLC39A14 Health Risk Pathogenic Hypermanganesemia with dystonia 2, Hypermanganesemia with dystonia 2
RS879253765 SLC39A14 Health Risk Pathogenic Hypermanganesemia with dystonia 2, Hypermanganesemia with dystonia 2
RS879253766 SLC39A14 Health Risk Pathogenic Hypermanganesemia with dystonia 2, Hypermanganesemia with dystonia 2
RS879253767 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS879253768 AGBL5 Health Risk Pathogenic Retinitis pigmentosa 75, Retinitis pigmentosa 75
RS879253769 AGBL5 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 75, Retinitis pigmentosa 75
RS879253773 GNB3 Health Risk Pathogenic Congenital stationary night blindness 1H, Congenital stationary night blindness 1H
RS879253774 GNB3 Health Risk Pathogenic Congenital stationary night blindness 1H, Congenital stationary night blindness 1H
RS879253775 NEK9 Health Risk Pathogenic Nevus comedonicus syndrome, Nevus comedonicus syndrome
RS879253776 TBX6 Health Risk Pathogenic Spondylocostal dysostosis 5, Spondylocostal dysostosis 5
RS879253777 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2A2
RS879253778 SFRP4 Health Risk Pathogenic Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia
RS879253779 TSEN15 Health Risk Pathogenic Pontocerebellar hypoplasia, type 2F
RS879253780 TSEN15 Health Risk Likely pathogenic Pontocerebellar hypoplasia, type 2F
RS879253781 APC Health Risk Likely pathogenic Classic or attenuated familial adenomatous polyposis, Classic or attenuated familial adenomatous polyposis
RS879253782 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS879253783 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS879253784 APC Health Risk Conflicting classifications of pathogenicity Gastric adenocarcinoma and proximal polyposis of the stomach, Hereditary cancer-predisposing syndrome
RS879253785 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Periampullary adenoma
RS879253786 HERC1 Health Risk Pathogenic Macrocephaly, dysmorphic facies
RS879253789 SCN4A Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Hyperkalemic periodic paralysis
RS879253796 TNFRSF11A Health Risk Likely pathogenic Familial expansile osteolysis, Familial expansile osteolysis
RS879253797 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS879253798 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS879253799 DCAF17 Health Risk Likely pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS879253800 CA12 Health Risk Pathogenic Isolated hyperchlorhidrosis, Isolated hyperchlorhidrosis
RS879253801 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS879253802 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS879253803 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS879253804 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS879253805 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Inborn genetic diseases
RS879253806 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS879253807 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS879253808 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS879253809 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS879253810 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS879253811 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS879253812 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS879253813 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS879253814 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS879253815 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS879253816 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS879253817 CIT Health Risk Likely pathogenic Autosomal recessive primary microcephaly, Microcephaly 17
RS879253818 DNAJC21 Health Risk Pathogenic Bone marrow failure syndrome 3, Inherited bone marrow failure syndrome
RS879253819 EMC1 Health Risk Pathogenic Cerebellar atrophy, visual impairment
RS879253820 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, METHYLMALONIC ACIDURIA
RS879253821 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253822 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253823 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253824 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253825 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253826 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253827 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253828 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253829 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253830 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253831 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253832 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253833 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253834 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253835 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253836 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253837 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253838 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253839 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253840 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS879253841 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253842 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253843 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253844 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253845 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253846 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253847 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253848 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS879253849 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
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