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
RS771955377 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS771956293 NOS1AP Health Risk Conflicting classifications of pathogenicity Colon adenocarcinoma, Colon adenocarcinoma
RS771956532 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771959876 ABCC8 Health Risk Pathogenic —
RS771961048 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS771961377 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS771961466 TPM1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS771965130 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Autosomal dominant spastic paraplegia type 9
RS771965165 MSTO1 Health Risk Likely pathogenic Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
RS771965437 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS771965444 SCN11A Health Risk Conflicting classifications of pathogenicity Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7
RS771965950 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771966860 SQSTM1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS771967537 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS771969240 TANGO2 Health Risk Conflicting classifications of pathogenicity Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
RS771972820 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS771973198 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS771973471 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS771974044 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS771974957 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS771976054 SEMA3E Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 7 with or without anosmia
RS771976817 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS771977117 TMPRSS3 Health Risk Pathogenic —
RS771977738 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771978129 TPO Health Risk Pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS771978135 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS771978846 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS771979221 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771979228 TOE1 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS771980065 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771980421 GLI2 Health Risk Likely pathogenic Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS771980888 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS771980986 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS771982640 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS771983073 GPI Health Risk Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS771984033 ABCA3 Health Risk Pathogenic/Likely pathogenic Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency
RS771984464 DSP Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS771984587 DRP2 Health Risk Conflicting classifications of pathogenicity —
RS771984795 INSR Health Risk Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans, Rabson-Mendenhall syndrome
RS771984796 SLC45A2 Health Risk Pathogenic —
RS771987341 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS771989092 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771989126 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS771990662 GRHPR Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
RS771992107 COX15 Health Risk Conflicting classifications of pathogenicity Cardioencephalomyopathy, fatal infantile
RS771993728 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS771994237 ALMS1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Alstrom syndrome
RS771994243 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS771994461 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS771994666 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS771995749 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS771995943 DOK7 Health Risk Likely pathogenic Congenital myasthenic syndrome, Fetal akinesia deformation sequence 3
RS771996573 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS772000260 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS772001300 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS772002335 ADGRV1 Health Risk Pathogenic —
RS772002773 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS772002851 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS772003357 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS772003869 CYP11B1 Health Risk Pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS772004291 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772005682 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Amyotrophic neuralgia, Amyotrophic neuralgia
RS772005832 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS772005975 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS77200626 TMPRSS15 Health Risk Pathogenic Enterokinase deficiency, Enterokinase deficiency
RS772007167 FLG Health Risk Pathogenic/Likely pathogenic Dermatitis, atopic
RS772007481 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772008300 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
RS772008531 MYO7A Health Risk Pathogenic —
RS772008567 ATP2B4 Health Risk Conflicting classifications of pathogenicity —
RS772008843 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS772008992 FCHO1 Health Risk Likely pathogenic —
RS772009116 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS772009599 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS772010347 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS772010423 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS772010858 MCCC1 Health Risk Pathogenic —
RS772011426 TRPM1 Health Risk Pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS772012378 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS772014118 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS772014160 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Inborn genetic diseases
RS772014416 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS772014561 BOLA3 Health Risk Pathogenic/Likely pathogenic Multiple mitochondrial dysfunctions syndrome 2, BOLA3-related disorder
RS772015167 ZNF335 Health Risk Conflicting classifications of pathogenicity —
RS772015796 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS772015926 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS772016314 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS772016629 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS772016816 CLCN7 Health Risk Likely pathogenic —
RS772017103 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS772017949 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS772018727 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS772019064 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS772019392 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS772020161 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS772020906 TTPA Health Risk Conflicting classifications of pathogenicity Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS772023360 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS772025323 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS772025588 CHAT Health Risk Pathogenic —
RS772026262 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
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