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
RS539166420 KIF5A Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS539166948 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease, Lewy body dementia
RS539177113 WWOX Health Risk Conflicting classifications of pathogenicity —
RS539177302 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS539178581 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
RS539181813 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS539189291 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS539190005 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS539192853 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS539194350 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS539203557 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS539214102 PTF1A Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
RS539215014 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS539217274 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, CBL-related disorder
RS539219309 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS539229419 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS539229732 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS539232957 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS539234338 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS539239516 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Encephalopathy
RS539256832 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS539267353 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS539268741 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS539272823 MYH3 Health Risk Conflicting classifications of pathogenicity Arthrogryposis multiplex congenita, Arthrogryposis multiplex congenita
RS539275646 OPLAH Health Risk Likely pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS539278802 LOXHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 77
RS539279281 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS539279965 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS539286945 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS539290591 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS539295465 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS539301011 AAGAB Health Risk Conflicting classifications of pathogenicity —
RS539303139 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Amyotrophic neuralgia, Amyotrophic neuralgia
RS539304668 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS539307365 NHLRC1 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases
RS539312991 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS539315640 RETREG1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS539319573 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS539320171 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS539321303 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS539324457 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS539326697 CBS Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Classic homocystinuria
RS539329589 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS539332275 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS539332585 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS539334628 TOPORS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS539337691 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS539341386 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Breast-ovarian cancer
RS539341907 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS539347883 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS539360032 SCNN1A Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism
RS539362640 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS539364383 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS539375675 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS539377223 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS539394184 SHOC2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome-like disorder with loose anagen hair 1, Noonan syndrome-like disorder with loose anagen hair 1
RS539400286 CEP290 Health Risk Pathogenic Joubert syndrome 5, Meckel syndrome
RS539403694 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS539406802 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS539407162 UBE3B Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Oculocerebrofacial syndrome
RS539413187 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS539433580 BAAT Health Risk Conflicting classifications of pathogenicity —
RS539435111 CYP17A1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS539437090 TSEN54 Health Risk Conflicting classifications of pathogenicity —
RS539437238 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS539447084 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS539453877 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Inborn genetic diseases
RS539455164 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS539456541 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS539460153 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS539460201 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS539468848 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS539470256 TTN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS539483307 CEP152 Health Risk Conflicting classifications of pathogenicity —
RS539484245 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
RS539487509 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Inborn genetic diseases
RS539500058 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS539507291 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS539516112 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS539524312 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS539533062 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS539535604 COG4 Health Risk Likely pathogenic Microcephalic osteodysplastic dysplasia, Saul-Wilson type
RS539540390 EPAS1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS539540626 CIC Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 45
RS539544212 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Medulloblastoma
RS539547575 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS539558089 GJA1 Health Risk Conflicting classifications of pathogenicity Hypoplastic left heart syndrome 1, Syndactyly type 3
RS539565729 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS539573652 AGPS Health Risk Conflicting classifications of pathogenicity —
RS539575253 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS539578837 TECRL Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, TECRL-related disorder
RS539578931 F7 Health Risk Likely pathogenic Factor VII deficiency, Factor VII deficiency
RS539585071 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS539587517 DSP Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS539590514 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS539596065 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS539600817 CNGA1 Health Risk Likely pathogenic Retinitis pigmentosa, See cases
RS539605016 MTOR Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Isolated focal cortical dysplasia type II
RS539612316 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS539613324 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
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