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
RS772228129 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS772228851 LGI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772228887 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS772228900 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS772229363 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS772229371 ANKRD11 Health Risk Pathogenic KBG syndrome, Inborn genetic diseases
RS772230310 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS772230378 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS772231144 PDHX Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS772231433 MATR3 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 21, Inborn genetic diseases
RS772231725 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS772233041 ZP2 Health Risk Likely pathogenic Oocyte maturation defect 6, Oocyte maturation defect 6
RS772233387 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS772233665 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS772234395 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS772234613 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS772235127 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS772235481 TTN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 9, Myopathy
RS772235528 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS772236084 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS772236610 DNAJC19 Health Risk Likely pathogenic 3-methylglutaconic aciduria type 5, Gastric cancer
RS772237527 HELLS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772239348 COL9A1 Health Risk Likely pathogenic —
RS772239442 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS772239586 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS772239870 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS772240008 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS772240035 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
RS772240606 CPT2 Health Risk Pathogenic Carnitine palmitoyl transferase II deficiency, myopathic form
RS772241382 PAX3 Health Risk Pathogenic Waardenburg syndrome type 3, Waardenburg syndrome type 1
RS772241737 CLDN16 Health Risk Pathogenic/Likely pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS772241929 ABCB11 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS772242251 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS772243422 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS772244670 CLCN7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772245091 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS772245567 CKAP2L Health Risk Conflicting classifications of pathogenicity Filippi syndrome, Filippi syndrome
RS772247940 CLDN19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Renal hypomagnesemia 5 with ocular involvement
RS772248060 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772248675 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS772248868 IFNGR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 28, Inborn genetic diseases
RS772250170 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS772254851 DNAJC5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS772254904 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Uterine carcinosarcoma
RS772255929 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS772257153 CARMIL2 Health Risk Pathogenic —
RS772258197 SCN5A Health Risk Conflicting classifications of pathogenicity Long QT syndrome 3, Brugada syndrome 1
RS772258959 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS772259302 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS772259344 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS772259613 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS772260091 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS772260271 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS772261260 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS772263867 VRK1 Health Risk Pathogenic Inborn genetic diseases, Pontocerebellar hypoplasia type 1A
RS772264078 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, 11 conditions
RS772264564 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS772264918 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS772266158 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS772266373 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Cardiovascular phenotype
RS772266411 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772267453 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS772267579 ANKRD11 Health Risk Pathogenic KBG syndrome, Abnormality of the nervous system
RS772268073 COMP Health Risk Pathogenic —
RS772268958 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772269570 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS772269793 CPT2 Health Risk Conflicting classifications of pathogenicity —
RS772270346 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS772273050 MYO5B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772274018 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS772274240 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS772274552 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS772281075 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS772282094 PUS7 Health Risk Pathogenic Intellectual developmental disorder with abnormal behavior, microcephaly
RS772283403 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, See cases
RS772285014 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS772285708 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS772286870 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS772287164 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS772287534 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS772289223 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS77229108 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS772292843 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS772293748 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS772294126 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772294235 ICOSLG Health Risk Conflicting classifications of pathogenicity —
RS772294505 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS772294564 AMHR2 Health Risk Pathogenic Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome
RS772294726 NDUFAF2 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex I deficiency
RS772294884 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 3
RS772295351 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia 2
RS772295550 CFAP44 Health Risk Conflicting classifications of pathogenicity —
RS772295894 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS772296795 SERAC1 Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS772298089 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS772299236 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS772300180 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder
RS772301300 RASA1 Health Risk Pathogenic Angioosteohypertrophic syndrome, Angioosteohypertrophic syndrome
RS772302001 MED27 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with spasticity
RS772303730 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy
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