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
RS745817765 CFAP251 Health Risk Pathogenic CFAP251-related disorder, Spermatogenic failure 33
RS745817983 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Inborn genetic diseases
RS745817995 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS745820221 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS745820842 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS745823180 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Hyperekplexia 3
RS745824514 GLRB Health Risk Conflicting classifications of pathogenicity Hyperekplexia 2, Inborn genetic diseases
RS745824721 PYCR2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS745824820 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS745825088 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS745825311 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS745825829 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS745827541 AGRN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS745829550 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS745832703 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS745832866 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS745833347 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS745833581 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS745834081 PRRT2 Health Risk Conflicting classifications of pathogenicity PRRT2-related disorder, PRRT2-related disorder
RS745834191 PEPD Health Risk Pathogenic/Likely pathogenic Prolidase deficiency, PEPD-related disorder
RS745835138 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS745835224 ABCC8 Health Risk Likely pathogenic Hereditary hyperinsulinism, Hereditary hyperinsulinism
RS745835965 TRIP4 Health Risk Pathogenic/Likely pathogenic —
RS745836140 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS745837768 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS745838504 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS745838620 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS745839689 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS745839898 CFAP300 Health Risk Pathogenic Ciliary dyskinesia, primary
RS745839954 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS745841296 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS745841943 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Polycystic liver disease 1
RS745842220 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS745842249 LIFR Health Risk Pathogenic —
RS745842900 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS745843093 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
RS745843581 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745844424 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Malignant hyperthermia
RS745844469 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS745844688 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS745844848 MOGS Health Risk Conflicting classifications of pathogenicity MOGS-congenital disorder of glycosylation, Inborn genetic diseases
RS745845130 COL5A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Ehlers-Danlos syndrome
RS745846357 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS745847253 TYR Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS745847824 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS745849418 NECTIN1 Health Risk Pathogenic —
RS745849763 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS745850676 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS745852521 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS745852738 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS745852751 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS745853068 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS745853643 SMAD2 Health Risk Likely pathogenic Loeys-Dietz syndrome 6, Loeys-Dietz syndrome 6
RS745854387 BMPR1B Health Risk Pathogenic Acromesomelic dysplasia 3, Acromesomelic dysplasia 3
RS745855631 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS745855639 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, Cardiovascular phenotype
RS745856838 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745857020 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS745857330 INSR Health Risk Conflicting classifications of pathogenicity Rabson-Mendenhall syndrome, Leprechaunism syndrome
RS745858331 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype
RS745858366 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Neurodevelopmental disorder
RS745858523 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS745860035 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS745861610 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS745861723 BCS1L Health Risk Conflicting classifications of pathogenicity Pili torti-deafness syndrome, GRACILE syndrome
RS745861885 AQP2 Health Risk Likely pathogenic Diabetes insipidus, nephrogenic
RS745862108 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS745862355 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS745862520 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS745863765 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS745863884 FGFR3 Health Risk Conflicting classifications of pathogenicity Achondroplasia, FGFR3-related disorder
RS745864233 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS745864564 WDR35 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Short-rib thoracic dysplasia 7 with or without polydactyly
RS745865153 SLC9A7 Health Risk Conflicting classifications of pathogenicity —
RS745865546 CYP19A1 Health Risk Pathogenic —
RS745865847 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS745866259 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS745867840 COQ8A Health Risk Pathogenic —
RS745868830 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS745869007 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS745869101 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS745869264 GNPAT Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS745870321 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS745870736 SEPSECS Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 2D, Inborn genetic diseases
RS745871149 RDH12 Health Risk Pathogenic/Likely pathogenic Macular dystrophy, Leber congenital amaurosis 13
RS745871522 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS745871771 OTOA Health Risk Likely pathogenic —
RS745871785 SETD1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745871962 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Dilated cardiomyopathy 1G
RS745872044 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS745872344 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS745872435 APRT Health Risk Likely pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS745873579 HESX1 Health Risk Pathogenic GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence
RS745873673 ARID1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14
RS745874032 COL7A1 Health Risk Pathogenic COL7A1-related disorder, COL7A1-related disorder
RS745874653 COL11A2 Health Risk Pathogenic/Likely pathogenic —
RS745874745 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS745876497 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS745876631 IRF4 Health Risk Conflicting classifications of pathogenicity —
RS745877709 ERLIN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
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