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
RS121918545 TINF2 Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 3
RS121918547 AAAS Health Risk Pathogenic/Likely pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS121918548 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Neurodevelopmental disorder
RS121918549 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, AAAS-related disorder
RS121918550 AAAS Health Risk Pathogenic/Likely pathogenic Glucocorticoid deficiency with achalasia, Spastic paraparesis
RS121918551 AAAS Health Risk Pathogenic Achalasia-alacrima syndrome, Achalasia-alacrima syndrome
RS121918552 CYCS Health Risk Likely pathogenic Thrombocytopenia 4, Thrombocytopenia
RS121918554 SAMD9 Health Risk Pathogenic Normophosphatemic familial tumoral calcinosis, Normophosphatemic familial tumoral calcinosis
RS121918555 TUBB1 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, isolated
RS121918557 BCHE Health Risk Pathogenic/Likely pathogenic Butyrylcholinesterase deficiency, fluoride-resistant
RS121918558 BCHE Health Risk Pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS121918559 SFTPC Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS121918560 SFTPC Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS121918563 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 7, digenic
RS121918564 PRPH2 Health Risk Pathogenic Vitelliform macular dystrophy 3, PRPH2-related disorder
RS121918565 PRPH2 Health Risk Pathogenic PRPH2-related disorder, Vitelliform macular dystrophy 3
RS121918566 PRPH2 Health Risk Pathogenic Vitelliform macular dystrophy 3, Vitelliform macular dystrophy 3
RS121918567 PRPH2 Health Risk Pathogenic/Likely pathogenic Choroidal dystrophy, central areolar 2
RS121918568 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas, Combined immunodeficiency due to partial RAG1 deficiency
RS121918569 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS121918570 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS121918571 RAG1 Health Risk Pathogenic/Likely pathogenic Histiocytic medullary reticulosis, Severe combined immunodeficiency
RS121918572 RAG1 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, B cell-negative
RS121918573 RAG2 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, B cell-negative
RS121918574 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Recombinase activating gene 2 deficiency
RS121918575 RAG2 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Inborn error of immunity
RS121918576 PDE6A Health Risk Pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa
RS121918577 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 43, Retinal dystrophy
RS121918578 PDE6A Health Risk Pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS121918579 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa
RS121918580 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS121918581 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa
RS121918582 PDE6B Health Risk Pathogenic Congenital stationary night blindness autosomal dominant 2, Congenital stationary night blindness autosomal dominant 2
RS121918583 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Autosomal recessive retinitis pigmentosa
RS121918584 FFAR4;RBP4 Health Risk Conflicting classifications of pathogenicity Progressive retinal dystrophy due to retinol transport defect, Progressive retinal dystrophy due to retinol transport defect
RS121918585 RBP4;FFAR4 Health Risk Likely pathogenic Progressive retinal dystrophy due to retinol transport defect, Progressive retinal dystrophy due to retinol transport defect
RS121918586 RHAG Health Risk Pathogenic Rh mod blood group phenotype, Rh mod blood group phenotype
RS121918587 RHAG Health Risk Likely pathogenic Rh-null, regulator type
RS121918589 RHAG Health Risk Pathogenic Rh-null, regulator type
RS121918590 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS121918591 RPIA Health Risk Pathogenic Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
RS121918592 RYR1 Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS121918594 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS121918597 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS121918598 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS121918599 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS121918600 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS121918601 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS121918602 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia, Long QT syndrome
RS121918603 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS121918604 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS121918605 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS121918607 AHCY Health Risk Pathogenic Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS121918608 AHCY Health Risk Pathogenic/Likely pathogenic Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases
RS121918609 STIL Health Risk Pathogenic Microcephaly 7, primary
RS121918610 SLC34A1 Health Risk Pathogenic Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypophosphatemic nephrolithiasis/osteoporosis 1
RS121918612 ATP1A2 Health Risk Pathogenic Migraine, familial hemiplegic
RS121918613 ATP1A2 Health Risk Pathogenic Migraine, familial hemiplegic
RS121918614 ATP1A2 Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS121918615 ATP1A2 Health Risk Pathogenic Migraine, familial hemiplegic
RS121918616 ATP1A2 Health Risk Pathogenic Migraine, familial basilar
RS121918617 ATP1A2 Health Risk Likely pathogenic Migraine, familial hemiplegic
RS121918620 ATP1A2 Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS121918621 SLC5A2 Health Risk Pathogenic Familial renal glucosuria, Familial renal glucosuria
RS121918622 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS121918623 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS121918624 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Migraine
RS121918625 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS121918626 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS121918627 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS121918628 SCN1A Health Risk Pathogenic Migraine, familial hemiplegic
RS121918629 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS121918630 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS121918631 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS121918632 SCN1A Health Risk Pathogenic Migraine, familial hemiplegic
RS121918633 SCN1A Health Risk Pathogenic Migraine, familial hemiplegic
RS121918634 SPTA1 Health Risk Pathogenic/Likely pathogenic Elliptocytosis 2, Spherocytosis
RS121918636 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Elliptocytosis 2
RS121918637 SPTA1 Health Risk Pathogenic Pyropoikilocytosis, hereditary
RS121918638 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Elliptocytosis 2
RS121918640 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Elliptocytosis 2
RS121918641 SPTA1 Health Risk Pathogenic/Likely pathogenic Elliptocytosis 2, Pyropoikilocytosis
RS121918642 SPTA1 Health Risk Pathogenic/Likely pathogenic Elliptocytosis 2, Pyropoikilocytosis
RS121918643 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS121918645 SPTB Health Risk Likely pathogenic Elliptocytosis 3, Elliptocytosis 3
RS121918646 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS121918647 SPTB Health Risk Pathogenic Pyropoikilocytosis, hereditary
RS121918648 SPTB Health Risk Pathogenic/Likely pathogenic Elliptocytosis 3, Hereditary spherocytosis type 2
RS121918649 SPTB Health Risk Conflicting classifications of pathogenicity ANEMIA, PERINATAL HEMOLYTIC
RS121918650 SPTB Health Risk Pathogenic Elliptocytosis 3, Elliptocytosis 3
RS121918651 SPTB Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS121918652 SOX2 Health Risk Conflicting classifications of pathogenicity Optic nerve hypoplasia and abnormalities of the central nervous system, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS121918653 KITLG Health Risk Pathogenic Hyperpigmentation with or without hypopigmentation, familial progressive
RS121918654 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS121918655 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS121918656 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS121918657 SURF1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS121918658 SURF1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS121918659 CD3E Health Risk Pathogenic Immunodeficiency 18, Immunodeficiency 18
RS121918660 CD8A Health Risk Pathogenic Susceptibility to respiratory infections associated with CD8alpha chain mutation, Susceptibility to respiratory infections associated with CD8alpha chain mutation
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