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
RS1484719321 CCNH;RASA1 Health Risk Pathogenic —
RS1484724510 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS148472572 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS148472763 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS148473140 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS148473245 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS148473467 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS148473513 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS148474667 SLC25A19 Health Risk Conflicting classifications of pathogenicity Amish lethal microcephaly, Amish lethal microcephaly
RS148474733 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS1484749107 SCAPER Health Risk Likely pathogenic Intellectual developmental disorder and retinitis pigmentosa, IDDRP
RS148475034 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS148475405 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1484755918 ZMYND15 Health Risk Pathogenic Spermatogenic failure 14, Spermatogenic failure 14
RS1484758238 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, Pancreatic adenocarcinoma
RS1484763838 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS148477093 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS148477226 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148477626 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Hereditary xanthinuria type 1
RS1484783852 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS148478527 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS148478829 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Woolly hair-skin fragility syndrome
RS148479162 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS1484795726 FHL1 Health Risk Conflicting classifications of pathogenicity Abnormality of the musculature, Abnormality of the musculature
RS1484797934 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1484798037 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1484802068 SAG Health Risk Conflicting classifications of pathogenicity Cone dystrophy, Cone dystrophy
RS1484807480 CEP104 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 25, Joubert syndrome 25
RS1484810169 POLG Health Risk Likely pathogenic Sensory ataxic neuropathy, dysarthria
RS148481163 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Occipital pachygyria and polymicrogyria
RS1484818039 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1484819896 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1484820531 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS1484826593 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1484835507 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1484840087 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS148484473 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS1484856529 WWOX Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS148486281 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1484876251 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS148487944 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS148488423 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS148489131 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1484899161 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS148490199 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS148490778 SLC1A3 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 6, Episodic ataxia type 6
RS148491228 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS148491967 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Hemorrhage
RS148492034 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS148492494 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS148493036 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS148493303 ACOX2 Health Risk Conflicting classifications of pathogenicity ACOX2-related disorder, ACOX2-related disorder
RS148493665 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS148493988 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148494026 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS148494695 ASPM Health Risk Conflicting classifications of pathogenicity —
RS1484948342 LRBA Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS148495154 FOCAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148496347 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS148496595 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related disorder, ADNP-related disorder
RS148496805 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, CNGA3-related retinopathy
RS148497044 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS148498212 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148498248 AQP4 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting
RS148498348 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SH3PXD2B-related disorder
RS1484983836 CC2D2A Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS148498577 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS148499164 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 51
RS148499544 GNRHR Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS1485001564 PNPO Health Risk Pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS148500446 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148501218 MAPT Health Risk Conflicting classifications of pathogenicity MAPT-Related Spectrum Disorders, Frontotemporal dementia
RS148501460 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS148501787 MARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS148501903 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS148502320 ESYT2 Health Risk Conflicting classifications of pathogenicity —
RS1485023784 PLA2G6 Health Risk Pathogenic/Likely pathogenic PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS148502464 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Cardiovascular phenotype
RS148502827 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS1485032272 NDUFS1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS1485034650 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS148503556 LRP2 Health Risk Conflicting classifications of pathogenicity —
RS1485036096 ADAMTS17 Health Risk Pathogenic —
RS1485038306 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS1485038937 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS148504118 NRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NRAP-related disorder
RS1485041245 SCNN1B Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Pseudohypoaldosteronism
RS148506076 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148506290 SRRM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1485065423 PPOX Health Risk Pathogenic —
RS1485073209 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS1485075318 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS148507801 CERKL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148508128 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease recessive intermediate A
RS148508754 RAG2 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency disease, Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
RS1485088384 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1485101622 MYO18B Health Risk Pathogenic/Likely pathogenic —
RS148510452 KRT10 Health Risk Conflicting classifications of pathogenicity Congenital reticular ichthyosiform erythroderma, Annular epidermolytic ichthyosis
RS148510496 LARS1 Health Risk Conflicting classifications of pathogenicity —
RS148511930 KIF23 Health Risk Conflicting classifications of pathogenicity —
« Prev 1 ... 701 702 703 704 705 706 707 ... 4509 Next »

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

Get Started Free →