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
RS144809928 HSD17B3 Health Risk Pathogenic/Likely pathogenic Pseudohermaphroditism, Inborn genetic diseases
RS1448103584 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1448108151 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome 3
RS1448112841 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1448113794 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS144811467 NUP160 Health Risk Conflicting classifications of pathogenicity —
RS144811578 TMEM43 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 7, autosomal dominant
RS144811771 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS144812066 CFB Health Risk Conflicting classifications of pathogenicity Macular degeneration, Atypical hemolytic-uremic syndrome with B factor anomaly
RS144812537 CRYGS Health Risk Conflicting classifications of pathogenicity Cataract 20 multiple types, Inborn genetic diseases
RS144812594 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Nonsyndromic Oculocutaneous Albinism
RS144812762 RAG2 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS144812913 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS1448130623 EFEMP1 Health Risk Likely pathogenic Glaucoma of childhood, Glaucoma of childhood
RS144813238 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases
RS144813819 CCDC88A Health Risk Conflicting classifications of pathogenicity —
RS144813907 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS1448139711 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS144814361 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS144814374 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS1448143895 IGF1R Health Risk Likely pathogenic IGF1R-related disorder, IGF1R-related disorder
RS144814658 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS144814689 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS144816455 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Hereditary spastic paraplegia
RS1448169616 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS144817385 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS144817869 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
RS144817994 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS1448182827 GBA2 Health Risk Pathogenic Spastic paraplegia, GBA2-related disorder
RS1448187077 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1448197132 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS144820445 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, See cases
RS1448210053 SZT2 Health Risk Pathogenic —
RS144821191 KANK2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome 16, Wooly hair-palmoplantar keratoderma syndrome
RS144821643 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS144821759 TERT Health Risk Conflicting classifications of pathogenicity Aplastic anemia, Pulmonary fibrosis and/or bone marrow failure
RS144821829 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS144822294 AIPL1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 4
RS144822691 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS144822855 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, CODAS syndrome
RS144822945 KDM1A Health Risk Conflicting classifications of pathogenicity Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome, KDM1A-related disorder
RS144823143 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1448237170 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1448244599 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS144824678 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, Camptomelic dysplasia
RS144824741 SERPINF2 Health Risk Conflicting classifications of pathogenicity —
RS1448248120 USH2A Health Risk Pathogenic —
RS144824844 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS144825021 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Microcephaly
RS144825489 DSG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144825552 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS1448259271 IRF2BPL Health Risk Pathogenic/Likely pathogenic IRF2BPL-related disorder, IRF2BPL-related disorder
RS1448259297 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Cardiac arrhythmia
RS1448260319 TECTA Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS1448260753 MACF1 Health Risk Conflicting classifications of pathogenicity —
RS144826451 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS1448265143 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS144826521 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1448268784 FH Health Risk Likely pathogenic Fumarase deficiency, Fumarase deficiency
RS144826995 BLNK Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 4, autosomal recessive
RS1448275854 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1448279636 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS144829001 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS144829269 TOE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TOE1-related disorder
RS1448296564 F7 Health Risk Likely pathogenic —
RS1448297165 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS144829917 IL31RA Health Risk Conflicting classifications of pathogenicity IL31RA-related disorder, IL31RA-related disorder
RS144830391 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144830879 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS144831860 FECH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144832454 NCKAP1L Health Risk Conflicting classifications of pathogenicity —
RS144832924 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS1448345366 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS144835192 ARHGEF10 Health Risk Conflicting classifications of pathogenicity ARHGEF10-related disorder, ARHGEF10-related disorder
RS144836032 INSR Health Risk Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans, Leprechaunism syndrome
RS144836828 RBP3 Health Risk Pathogenic —
RS1448376709 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1448380294 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1448381947 PKLR Health Risk Pathogenic —
RS1448385261 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1448390501 MPDZ Health Risk Likely pathogenic —
RS144839449 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144839482 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS144840340 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS144840779 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Wolfram-like syndrome
RS144840915 VSX2 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia
RS144841026 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS144841598 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS144843064 COG6 Health Risk Conflicting classifications of pathogenicity COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
RS144843732 CDT1 Health Risk Conflicting classifications of pathogenicity —
RS1448438600 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS144844263 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS144844792 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS144844866 KMT2A Health Risk Conflicting classifications of pathogenicity Wiedemann-Steiner syndrome, Inborn genetic diseases
RS1448450110 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1448454894 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS144845618 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1448463647 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1448467079 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia
RS1448468321 ABCA4 Health Risk Pathogenic Retinal dystrophy, Inborn genetic diseases
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