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
RS146873848 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1468740591 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1468741050 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS146874573 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1468753963 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS146875699 AKT1 Health Risk Conflicting classifications of pathogenicity Cowden syndrome 6, Hereditary cancer
RS1468758171 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1468759946 C6 Health Risk Pathogenic —
RS146876119 PDHX Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS146876145 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS1468762603 ABCC8 Health Risk Pathogenic/Likely pathogenic Familial hyperinsulinism, Familial hyperinsulinism
RS1468768980 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1468772495 FERRY3 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 66
RS146877597 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS146878122 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1468782400 TANC2 Health Risk Pathogenic —
RS1468786988 KIF1C Health Risk Likely pathogenic —
RS1468788 SLC9A4 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS1468789751 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1468794540 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS146880270 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS146880648 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS1468812059 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS146882296 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1468825512 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS146882581 PKP2 Health Risk Conflicting classifications of pathogenicity Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia 9
RS146882697 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS146885451 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS146886839 DOCK2 Health Risk Conflicting classifications of pathogenicity DOCK2 deficiency, DOCK2-related disorder
RS146887876 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS146888744 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Qualitative or quantitative defects of beta-sarcoglycan
RS146888928 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS146889178 ENTPD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 64, Hereditary spastic paraplegia
RS1468895797 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS146890210 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1468904853 F9 Health Risk Likely pathogenic Thrombophilia, X-linked
RS146890792 PCK2 Health Risk Conflicting classifications of pathogenicity —
RS1468909944 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS1468917268 CYP2U1 Health Risk Pathogenic Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56
RS146891755 PLXNB3 Health Risk Conflicting classifications of pathogenicity —
RS1468919595 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS146892293 AVPR2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS1468925322 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS146893537 DNAJC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1468939642 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS146894026 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS1468940369 EIF2B1 Health Risk Likely pathogenic —
RS146894065 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS146894194 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS1468942944 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS146895719 FZD4 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 1, Inborn genetic diseases
RS146895834 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS146896442 DCTN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 1
RS1468965930 NR2F1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146897125 ADGRA3 Health Risk Conflicting classifications of pathogenicity —
RS146897650 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1468976582 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS146898035 FN1 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS146899194 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS146899328 SLC38A8 Health Risk Pathogenic —
RS1468995507 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS146899588 CHRNA1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS146899669 FECH Health Risk Pathogenic —
RS146899730 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS146899814 SI Health Risk Conflicting classifications of pathogenicity SI-related disorder, Inborn genetic diseases
RS146899953 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS146900210 KRT17 Health Risk Conflicting classifications of pathogenicity Pachyonychia congenita 2, Steatocystoma multiplex
RS146900529 NARS2 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive 94
RS146900850 HSPB8 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy
RS1469012975 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS146901872 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
RS146902156 WNT10A Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS1469021843 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS146902252 IGF1R Health Risk Conflicting classifications of pathogenicity —
RS146902369 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS146902870 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS146902902 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Intellectual disability
RS146902993 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS146903539 COL9A2 Health Risk Conflicting classifications of pathogenicity COL9A2-related disorder, COL9A2-related disorder
RS146903750 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS146904189 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral arteriopathy
RS1469052163 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1469053638 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS146905706 IYD Health Risk Conflicting classifications of pathogenicity IYD-related disorder, IYD-related disorder
RS146906190 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS146906267 TCAP Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
RS146906606 TUBB4A Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Torsion dystonia 4
RS146907132 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS146907470 FRMPD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146908258 TBX5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1469108369 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1469113412 MYCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146911421 NCF4 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS146911485 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS146912450 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1469129426 HJV Health Risk Pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS146913017 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS146913105 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS146913158 HYCC1 Health Risk Conflicting classifications of pathogenicity Hypomyelination and Congenital Cataract, HYCC1-related disorder
RS146913514 PROS1 Health Risk Conflicting classifications of pathogenicity PROS1-related disorder, Thrombophilia due to protein S deficiency
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