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
RS200944978 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200945025 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200945282 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS200945405 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome, Retinal dystrophy
RS200945419 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS200945460 SCN1A-AS1;SCN9A Health Risk Conflicting classifications of pathogenicity Small fiber neuropathy, Primary erythromelalgia
RS200945599 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS200945986 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS200946004 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Inborn genetic diseases
RS200946042 ALG9 Health Risk Conflicting classifications of pathogenicity Gillessen-Kaesbach-Nishimura syndrome, ALG9 congenital disorder of glycosylation
RS200946170 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS200946638 RHO Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 4, Retinitis pigmentosa
RS200946949 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200947059 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS200947079 SLC1A3 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 6, Episodic ataxia type 6
RS200947169 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis
RS200947378 GYG1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS200947767 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Left ventricular noncompaction
RS200947814 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS200947928 FRMPD4 Health Risk Conflicting classifications of pathogenicity —
RS200947960 FLNB Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type III, Atelosteogenesis type I
RS200948051 SMARCAD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200948076 SYNE4 Health Risk Conflicting classifications of pathogenicity —
RS200948078 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS200948100 GP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200948177 PTCH1 Health Risk Conflicting classifications of pathogenicity —
RS200948626 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS200948740 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS200948870 BMPR2 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS200949030 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS200949161 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200949243 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS200949505 PLOD3 Health Risk Conflicting classifications of pathogenicity Bone fragility with contractures, arterial rupture
RS200949691 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS200949988 ANGPTL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200950362 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS200950385 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS200950545 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS200950673 RYR1 Health Risk Conflicting classifications of pathogenicity Axial myopathy, late-onset
RS200950723 ACAN Health Risk Conflicting classifications of pathogenicity —
RS200950761 PACS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
RS200950813 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS200950824 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS200951235 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS200951269 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200951432 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200951677 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200951744 ARMC5 Health Risk Conflicting classifications of pathogenicity ACTH-independent macronodular adrenal hyperplasia 2, ARMC5-related disorder
RS200952266 NHS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nance-Horan syndrome
RS200952409 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Nephronophthisis
RS200952556 NIN Health Risk Conflicting classifications of pathogenicity —
RS200952728 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200952733 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS200952751 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 7, Paget disease of bone 2
RS200952904 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS200953311 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS200953683 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 5
RS200954184 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200954442 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200954931 XPR1 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS200955612 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS200955619 MPDZ Health Risk Pathogenic/Likely pathogenic MPDZ-related disorder, MPDZ-related disorder
RS200955853 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200955930 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS200956071 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200956105 MYO1E Health Risk Likely pathogenic Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS200956405 PRMT9 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS200956485 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200956636 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Autoinflammatory syndrome
RS200956659 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS200956777 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS200957146 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Microcephaly 9
RS200957354 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS200957385 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS200957609 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Inborn genetic diseases
RS200957784 UTP4 Health Risk Conflicting classifications of pathogenicity Hereditary North American Indian childhood cirrhosis, UTP4-related disorder
RS200958035 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS200958264 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Colorectal cancer
RS200958282 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200958438 KIF26A Health Risk Conflicting classifications of pathogenicity Cortical dysplasia, complex
RS200958757 SLC25A15 Health Risk Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS200958860 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200959130 EFEMP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS200959191 MYOM2 Health Risk Conflicting classifications of pathogenicity —
RS200959957 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS200960659 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, GALC-related disorder
RS200960707 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
RS200960909 TYR Health Risk Pathogenic Oculocutaneous albinism, Oculocutaneous albinism
RS200960921 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Pulmonary hypertension
RS200961157 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, DYNC2H1-related disorder
RS200961385 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS200962248 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS200962317 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS200962876 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS200963011 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS200963111 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200963371 TIA1 Health Risk Conflicting classifications of pathogenicity Welander distal myopathy, Welander distal myopathy
RS200963388 SLC25A21 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 18, Mitochondrial DNA depletion syndrome 18
RS200963656 ZNF335 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200963831 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
« Prev 1 ... 1453 1454 1455 1456 1457 1458 1459 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →