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
RS1570426424 ABCA4 Health Risk Conflicting classifications of pathogenicity Isolated macular dystrophy, Isolated macular dystrophy
RS1570426448 ABCA4 Health Risk Pathogenic —
RS1570427705 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570428456 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1570433022 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570433137 ABCA4 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS1570433288 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570433472 AGL Health Risk Pathogenic Glycogen storage disease IIIa, Glycogen storage disease IIIa
RS1570433686 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1570438459 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1570442236 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS1570443086 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570443585 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570443687 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570444542 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570445130 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1570452214 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1570452407 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type 8
RS1570453963 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta
RS1570454914 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1570463842 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS1570464856 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1570465624 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1570467133 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1570467252 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1570470199 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS1570470281 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1570470323 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1570472103 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia 1, Congenital amegakaryocytic thrombocytopenia 1
RS1570472113 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1570472144 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1570473609 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS1570474015 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia 1, Congenital amegakaryocytic thrombocytopenia
RS1570475998 MTHFR Health Risk Pathogenic Neural tube defects, folate-sensitive
RS1570476221 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1570479611 P3H1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1570486718 ELOVL1 Health Risk Conflicting classifications of pathogenicity Ichthyotic keratoderma, spasticity
RS1570487381 AGL Health Risk Pathogenic Glycogen storage disease type III, Thyroid cancer
RS1570497770 ARHGAP29 Health Risk Pathogenic Nonsyndromic cleft lip with or without cleft palate, Nonsyndromic cleft lip with or without cleft palate
RS1570497904 NFIA Health Risk Likely pathogenic —
RS1570504754 NPHP4 Health Risk Likely pathogenic Nephronophthisis 4, Nephronophthisis 4
RS1570508240 AGL Health Risk Pathogenic Glycogen storage disease IIIa, Glycogen storage disease IIIa
RS1570514784 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1570520175 SVBP Health Risk Pathogenic/Likely pathogenic Lower limb spasticity, Microcephaly
RS1570520229 SVBP Health Risk Pathogenic Microcephaly, Intellectual disability
RS1570539863 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1570562309 GNAT2 Health Risk Pathogenic Achromatopsia 4, Achromatopsia 4
RS1570565168 GNAT2 Health Risk Likely pathogenic —
RS1570566590 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia 7, Diamond-Blackfan anemia
RS1570566592 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1570566714 RPL11 Health Risk Likely pathogenic Anemia, Reticulocytopenia
RS1570569383 RPL11 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1570588220 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS1570590528 SLC2A1 Health Risk Likely pathogenic Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2
RS1570590834 SLC2A1 Health Risk Likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1570590859 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS1570590876 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS1570590905 SLC2A1 Health Risk Likely pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS1570591031 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1570591037 SLC2A1 Health Risk Pathogenic —
RS1570592604 SLC2A1 Health Risk Pathogenic Global developmental delay, Strabismus
RS1570592618 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS1570592655 SLC2A1 Health Risk Pathogenic —
RS1570592813 SLC2A1 Health Risk Likely pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1570592844 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS1570592933 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1570593449 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1570593475 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1570593487 SLC2A1 Health Risk Pathogenic —
RS1570593595 SLC2A1 Health Risk Pathogenic —
RS1570593621 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1570593665 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1570593820 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS1570593865 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS1570593881 SLC2A1 Health Risk Pathogenic —
RS1570593893 SLC2A1 Health Risk Pathogenic —
RS1570600997 SLC2A1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS1570601007 SLC2A1 Health Risk Likely pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS1570601051 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS1570601060 SLC2A1 Health Risk Likely pathogenic Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency
RS1570601100 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS1570607996 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS1570609440 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS1570615526 SLC35A3 Health Risk Likely pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS1570619302 SLC16A1 Health Risk Pathogenic Ketoacidosis due to monocarboxylate transporter-1 deficiency, Exercise-induced hyperinsulinism
RS1570621473 TOE1 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS1570621555 TOE1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS1570621899 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS1570622663 ARID1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 14
RS1570623368 ARID1A Health Risk Likely pathogenic —
RS1570623881 SLC16A1 Health Risk Likely pathogenic Exercise-induced hyperinsulinism, Exercise-induced hyperinsulinism
RS1570625903 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS1570626350 TOE1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS1570630126 COL11A1 Health Risk Likely pathogenic —
RS1570630665 GALE Health Risk Pathogenic/Likely pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS1570632355 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1570640673 GNB1 Health Risk Pathogenic Dystonic disorder, Atypical behavior
RS1570643880 SLC35D1 Health Risk Pathogenic Schneckenbecken dysplasia, Schneckenbecken dysplasia
RS1570654979 NOTCH2 Health Risk Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1570655570 NOTCH2 Health Risk Likely pathogenic Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation
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