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
RS200495793 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS200495808 RTTN Health Risk Pathogenic/Likely pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS200495929 RNASEH1 Health Risk Conflicting classifications of pathogenicity —
RS200496091 POLH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200496125 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Inborn genetic diseases
RS200496207 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS200496467 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200496951 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS200497106 TYMP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200497111 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200497189 TRPV4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C
RS200497262 KRTAP10-12;TSPEAR Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 98, Autosomal recessive nonsyndromic hearing loss 98
RS200497324 CFHR4 Health Risk Conflicting classifications of pathogenicity —
RS200497341 TAPBP Health Risk Conflicting classifications of pathogenicity MHC class I deficiency, MHC class I deficiency
RS200497471 NIPAL4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 6, NIPAL4-related disorder
RS200497615 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200497761 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS200497972 KMT2A Health Risk Pathogenic/Likely pathogenic See cases, Wiedemann-Steiner syndrome
RS200498630 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS200499115 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS200499325 GLI2 Health Risk Conflicting classifications of pathogenicity Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS200499838 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS200500110 HUWE1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked syndromic
RS200500313 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS200500444 GUCY2C Health Risk Conflicting classifications of pathogenicity —
RS200500566 DOCK9 Health Risk Conflicting classifications of pathogenicity —
RS200501190 SIN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200501968 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS200502048 BRAT1 Health Risk Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS200502077 SGCG Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy
RS200502496 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS200502811 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS200502817 PJVK Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 59, PJVK-related disorder
RS200502960 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS200503016 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200503438 ASAH1 Health Risk Conflicting classifications of pathogenicity Farber lipogranulomatosis, Farber lipogranulomatosis
RS200503488 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200503569 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, Premature ovarian failure
RS200503628 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS200503833 B4GALT7 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome
RS200504529 MPV17 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MPV17-related disorder
RS200504733 FSHR Health Risk Conflicting classifications of pathogenicity Ovarian hyperstimulation syndrome, Ovarian dysgenesis 1
RS200505176 CRYGC Health Risk Conflicting classifications of pathogenicity Nuclear pulverulent cataract, Nuclear pulverulent cataract
RS200505258 KLK14 Health Risk Conflicting classifications of pathogenicity —
RS200505839 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, Inborn genetic diseases
RS200505871 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS200506310 ITCH Health Risk Conflicting classifications of pathogenicity Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS200506778 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS200506892 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200507089 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS200507575 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS200507617 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 8
RS200507933 PJVK Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS200508160 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS200508870 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS200509064 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS200509072 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS200509641 PKD1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS200509833 REST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200509948 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS200510049 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS200510205 TREX1 Health Risk Conflicting classifications of pathogenicity Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Aicardi-Goutieres syndrome 1
RS200510423 NALCN Health Risk Conflicting classifications of pathogenicity Congenital contractures of the limbs and face, hypotonia
RS200510462 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS200510532 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, COL4A3-related disorder
RS200510672 EFHC1 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy
RS200510675 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS200511074 B3GAT3 Health Risk Conflicting classifications of pathogenicity Larsen-like syndrome, B3GAT3 type
RS200511208 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS200511261 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS200511467 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS200511787 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS200511789 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS200511900 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Elliptocytosis 2
RS200512461 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS200512692 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Clear cell carcinoma of kidney
RS200512758 POLR1A Health Risk Conflicting classifications of pathogenicity Acrofacial dysostosis Cincinnati type, Leukodystrophy
RS200513014 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS200513114 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS200513156 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200513274 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200513352 KPTN Health Risk Conflicting classifications of pathogenicity Macrocephaly-developmental delay syndrome, Inborn genetic diseases
RS200513558 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS200514048 IGSF1 Health Risk Conflicting classifications of pathogenicity X-linked central congenital hypothyroidism with late-onset testicular enlargement, Inborn genetic diseases
RS200514222 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS200514769 TRPM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS200514807 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS200515013 PHIP Health Risk Likely pathogenic PHIP-related disorder, PHIP-related disorder
RS200515072 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS200515572 COL11A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, COL11A1-related disorder
RS200516164 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS200517023 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS200517349 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS200517420 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS200517685 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS200517944 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 6 conditions
RS200517971 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early-infantile DEE
RS200517998 PAX3 Health Risk Likely pathogenic —
RS200518204 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS200518261 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
« Prev 1 ... 1431 1432 1433 1434 1435 1436 1437 ... 4509 Next »

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

Get Started Free →