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
RS367737920 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS367738288 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS367739730 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy
RS367739982 CC2D1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 3
RS367740129 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS367740265 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS367740710 ABHD5 Health Risk Pathogenic Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS367741588 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS367743263 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS367743923 POMT1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS367744351 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS367744803 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS367745335 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS367745869 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 1, Inborn genetic diseases
RS367747168 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS367748425 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS367749123 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Amyotrophic neuralgia, Inborn genetic diseases
RS367749546 CLIC5 Health Risk Conflicting classifications of pathogenicity CLIC5-related disorder, CLIC5-related disorder
RS367750112 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS367750869 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Inborn genetic diseases
RS367751077 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS367751308 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS367752002 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS367752269 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS367752391 TRIT1 Health Risk Conflicting classifications of pathogenicity TRIT1 Deficiency, Combined oxidative phosphorylation deficiency 35
RS367752526 PLK4 Health Risk Conflicting classifications of pathogenicity Uveal melanoma, Uveal melanoma
RS367753936 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS367754347 SLC26A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
RS367754862 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS367756884 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS367757240 THRB Health Risk Conflicting classifications of pathogenicity Thyroid hormone resistance, generalized
RS367757761 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS367758473 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS367759510 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS367759638 ENPP1 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS367760102 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS367760321 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS367760700 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS367760905 GHR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367761849 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS367762942 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS367763339 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS367765050 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS367766963 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS367767249 HDAC6 Health Risk Conflicting classifications of pathogenicity —
RS367767551 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS367767903 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS367768061 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS367768260 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, SMARCB1-related schwannomatosis
RS367769075 ITGA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epidermolysis bullosa
RS367769606 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS367770505 CDH15 Health Risk Conflicting classifications of pathogenicity CDH15-related disorder, CDH15-related disorder
RS367771361 RFX5 Health Risk Likely pathogenic MHC class II deficiency, RFX5-related disorder
RS367772050 DMXL2 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal dominant 71
RS367772526 FBXO11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367772790 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS367773430 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS367773799 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS367774903 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS367774920 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS367775055 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367775730 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Cutis laxa
RS367776636 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS367778594 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Intellectual disability
RS367778922 SCN5A Health Risk Conflicting classifications of pathogenicity Progressive familial heart block, type 1A
RS367778973 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Neuroblastoma
RS367781236 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS367781728 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS367783282 PFKM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VII
RS367783346 BSCL2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 2, Congenital generalized lipodystrophy type 2
RS367783946 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS367784109 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Occipital pachygyria and polymicrogyria
RS367784268 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS367785289 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS367785431 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial restrictive
RS367785766 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS367786290 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS367788462 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS367788805 ZDBF2 Health Risk Conflicting classifications of pathogenicity —
RS367789070 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS367789349 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS367789750 CNNM2 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS367790193 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS367790253 GDAP1 Health Risk Likely pathogenic —
RS367790421 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS367790484 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS367790793 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS367793349 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS367793824 ACACA Health Risk Conflicting classifications of pathogenicity —
RS367794835 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS367794981 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
RS367797069 SERPINA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alpha-1-antitrypsin deficiency
RS367797077 RIN2 Health Risk Conflicting classifications of pathogenicity RIN2 syndrome, Inborn genetic diseases
RS367797185 ACE Health Risk Pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin
RS367797470 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367797946 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS367798015 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS367798424 COL9A1 Health Risk Conflicting classifications of pathogenicity COL9A1-related disorder, COL9A1-related disorder
RS367799017 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS367799104 ODAD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Fraser syndrome 3
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