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
RS377027316 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Metachromatic leukodystrophy
RS377027708 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS377027736 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS377029031 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS377029071 RDH5 Health Risk Pathogenic/Likely pathogenic Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS377029492 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS377030351 RADIL Health Risk Conflicting classifications of pathogenicity —
RS377031435 BBS4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Bardet-Biedl syndrome
RS377032117 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, Inborn genetic diseases
RS377032453 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS377033778 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS377033831 KIAA0753 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377034289 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377034463 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Mitochondrial complex I deficiency
RS377034676 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder
RS377035059 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS377035113 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS377035218 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS377035835 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS377036305 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS377036485 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS377037421 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS377039110 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS377039314 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS377039609 TOPORS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS377039794 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS377041406 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS377041776 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS377041799 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377042002 OTOF Health Risk Conflicting classifications of pathogenicity —
RS377042231 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS377042647 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS377042940 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS377043149 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS377043696 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS377044024 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377045545 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS377046345 ST3GAL5 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, Inborn genetic diseases
RS377046577 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS377046630 FRAS1 Health Risk Pathogenic Fraser syndrome 1, FRAS1-related disorder
RS377048120 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS377049098 CYP1B1 Health Risk Pathogenic Anterior segment dysgenesis 6, Congenital glaucoma
RS377049518 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS377049622 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS377049663 DDHD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 28, Hereditary spastic paraplegia
RS377049803 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS377050013 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS377050184 HGSNAT Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 73, Mucopolysaccharidosis
RS377050219 APRT Health Risk Conflicting classifications of pathogenicity Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS377050640 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS377050648 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS377051194 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS377051298 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS377054979 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS377055239 CYBA Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS377056065 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS377056111 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS377056951 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
RS377058395 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS377058706 COL4A4 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS377059283 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS377059643 HR Health Risk Conflicting classifications of pathogenicity Alopecia universalis congenita, Atrichia with papular lesions
RS377059744 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS377060857 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
RS377061296 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS377061675 TBCE Health Risk Likely pathogenic —
RS377062537 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS377062748 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS377063208 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS377063331 PDHB Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase complex deficiency
RS377063535 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS377063950 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS377064036 FLII Health Risk Pathogenic Cardiomyopathy, dilated
RS377066518 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS377067312 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS377068014 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS377068202 RYR2 Health Risk Conflicting classifications of pathogenicity Sudden death, Hypertrophic cardiomyopathy
RS377068257 TECRL Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS377068982 POGZ Health Risk Conflicting classifications of pathogenicity Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Inborn genetic diseases
RS377069358 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS377069922 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS377070695 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS377071831 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS377073379 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS377074720 MASP1 Health Risk Conflicting classifications of pathogenicity 3MC syndrome 1, 3MC syndrome 1
RS377074792 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Colon adenocarcinoma
RS377074932 ANKRD1 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS377074955 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS377075332 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, Inborn genetic diseases
RS377075596 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS377075950 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS377075961 SOX10 Health Risk Conflicting classifications of pathogenicity —
RS377076154 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS377076374 AKT1 Health Risk Conflicting classifications of pathogenicity Cowden syndrome 6, Cowden syndrome 6
RS377076733 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 1
RS377077037 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS377077969 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS377078179 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS377078635 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS377079894 COL2A1 Health Risk Conflicting classifications of pathogenicity COL2A1-related disorder, Inborn genetic diseases
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