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
RS551392566 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Neuroblastoma
RS551396698 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS551399575 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS551399966 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS551406712 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS551420048 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, Pancreatic adenocarcinoma
RS551420606 PCNT Health Risk Pathogenic —
RS551423795 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS551439289 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS551446826 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Inborn genetic diseases
RS551450545 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS551455074 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS551460373 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS551466727 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS551472773 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS551478195 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS551482419 CEP55 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS551484245 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS551485241 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS551490261 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS551498843 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS551505442 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS551509462 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS551510986 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS551519696 TULP1 Health Risk Pathogenic Leber congenital amaurosis 15, Leber congenital amaurosis
RS551520537 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS551520922 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS551522837 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Idiopathic Pulmonary Fibrosis
RS551523071 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYO18B-related disorder
RS551528700 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS551538420 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS551538592 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia complementation group P
RS551539015 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS551541795 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS551541918 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS551542832 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, PINK1-related disorder
RS551547276 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS551548107 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS551564683 B4GALT1 Health Risk Pathogenic Combined low LDL and fibrinogen, Combined low LDL and fibrinogen
RS551565600 TK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS551568063 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Inborn genetic diseases
RS551585351 ACTA1 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion, Actin accumulation myopathy
RS551588340 IFITM5 Health Risk Conflicting classifications of pathogenicity —
RS551593086 NLRP5 Health Risk Conflicting classifications of pathogenicity —
RS551594235 FSIP2 Health Risk Conflicting classifications of pathogenicity FSIP2-related disorder, FSIP2-related disorder
RS551602980 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS551605384 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS551607784 CD36 Health Risk Likely pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS551618643 IGFALS Health Risk Likely pathogenic Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS551632763 SLC16A12 Health Risk Conflicting classifications of pathogenicity Juvenile cataract-microcornea-renal glucosuria syndrome, Juvenile cataract-microcornea-renal glucosuria syndrome
RS551649582 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS551658963 TTN Health Risk Conflicting classifications of pathogenicity —
RS551660089 ATP2A1 Health Risk Pathogenic/Likely pathogenic Brody myopathy, Familial cancer of breast
RS551666112 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS551679833 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS551685122 SIN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS551695730 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS551698259 SNORD118 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS551708243 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, 6 conditions
RS551711839 HDAC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS551720360 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS551729799 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS551736585 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS551742573 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 4, Cardiovascular phenotype
RS551747280 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS551747882 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS551750608 PNPT1 Health Risk Conflicting classifications of pathogenicity —
RS551754962 FREM1 Health Risk Conflicting classifications of pathogenicity FREM1-related disorder, FREM1-related disorder
RS551773096 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS551776784 GNAT2 Health Risk Conflicting classifications of pathogenicity Achromatopsia 4, Hepatocellular carcinoma
RS551782391 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, Familial thoracic aortic aneurysm and aortic dissection
RS551783234 STAR Health Risk Pathogenic/Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS551794772 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS551796026 GUCY2C Health Risk Conflicting classifications of pathogenicity Congenital diarrhea 6, Meconium ileus
RS551801857 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS551802153 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS551803988 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS551805527 PRKCG Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Inborn genetic diseases
RS551809680 SHH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Holoprosencephaly 3
RS551814886 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS551815828 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS551819918 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS551828597 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS551833939 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS551837418 SCN3A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 62
RS551849678 PROM1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 12, Retinitis pigmentosa
RS551883218 PKLR Health Risk Likely pathogenic —
RS551884479 ABCA1 Health Risk Conflicting classifications of pathogenicity —
RS551887944 CTNNA3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
RS551888783 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Hypertrophic cardiomyopathy
RS551889844 HNF1B Health Risk Conflicting classifications of pathogenicity HNF1B-related disorder, HNF1B-related disorder
RS551897533 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS551905996 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TTN-related disorder
RS551911856 TTN Health Risk Conflicting classifications of pathogenicity —
RS551919295 OTOF Health Risk Conflicting classifications of pathogenicity —
RS551938797 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS551940721 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS551940973 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Ovarian cancer
RS551949683 LOXHD1 Health Risk Conflicting classifications of pathogenicity LOXHD1-related disorder, LOXHD1-related disorder
RS551951844 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
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