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
RS768421620 CERS1 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 8, Progressive myoclonic epilepsy type 8
RS768422260 CLN6 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS768423834 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Retinitis pigmentosa 3
RS768423968 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Charcot-Marie-Tooth disease axonal type 2O
RS768425085 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS768425517 APRT Health Risk Conflicting classifications of pathogenicity Adenine phosphoribosyltransferase deficiency, APRT-related disorder
RS768425956 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS768426236 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS768426565 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS768426818 SLC4A1 Health Risk Conflicting classifications of pathogenicity 11 conditions, Inborn genetic diseases
RS768427035 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS768429457 CFAP44 Health Risk Likely pathogenic Spermatogenic failure 20, Spermatogenic failure 20
RS768430352 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS768430430 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS768430443 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS768430744 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS768431507 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS768434256 COL6A2 Health Risk Conflicting classifications of pathogenicity Myosclerosis, Ullrich congenital muscular dystrophy 1A
RS768434408 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS768435283 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS768435443 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Stargardt disease 3
RS768436316 PDHB Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS768437317 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS768437607 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS768437944 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS768438032 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS768438206 HEXB Health Risk Pathogenic Sandhoff disease, infantile form
RS768439693 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS768440346 ERCC5 Health Risk Likely pathogenic —
RS768441855 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Polymicrogyria
RS768443391 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS768443448 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS768444916 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS768445391 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Retinal dystrophy
RS768445477 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS768445814 MYO5A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768446132 WDR72 Health Risk Pathogenic Renal tubular acidosis, distal
RS768446878 SKIC2 Health Risk Pathogenic —
RS768447053 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS768447289 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS768447330 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS768447406 DUOX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768448663 LIPH Health Risk Pathogenic/Likely pathogenic Hypotrichosis 7, Hypotrichosis 7
RS768448761 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS768449493 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS768449676 RTN2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 12, Spastic paraplegia
RS768449767 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Drash syndrome
RS768452911 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases
RS768453184 ZNF335 Health Risk Conflicting classifications of pathogenicity —
RS768453376 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS768453396 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS768453540 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS768454424 PRPS1 Health Risk Likely pathogenic Phosphoribosylpyrophosphate synthetase superactivity, Phosphoribosylpyrophosphate synthetase superactivity
RS768454744 NCAPD2 Health Risk Likely pathogenic —
RS768454790 CPLANE1 Health Risk Pathogenic —
RS768454793 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS768454870 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS768455387 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ovarian cancer
RS768455823 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS768456339 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease dominant intermediate C
RS768457119 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS768458445 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS768458485 LRP2 Health Risk Pathogenic/Likely pathogenic LRP2-related disorder, Donnai-Barrow syndrome
RS768458725 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS768459071 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS768461447 USH2A Health Risk Conflicting classifications of pathogenicity —
RS768461820 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768463051 TCF12 Health Risk Pathogenic —
RS768463319 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS768463498 NDUFA6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768464558 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS768465241 TBX6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768465413 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS768467230 IDUA Health Risk Conflicting classifications of pathogenicity —
RS768467260 SLC3A1 Health Risk Pathogenic Cystine urolithiasis, Cystinuria
RS768471244 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS768471577 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Hearing loss
RS768472164 MYO7A Health Risk Pathogenic —
RS768472814 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS768473920 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS768474010 ECM1 Health Risk Pathogenic/Likely pathogenic Lipid proteinosis, ECM1-related disorder
RS768474112 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS768475262 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS768475581 RCBTB1 Health Risk Pathogenic —
RS768478218 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS768478427 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS768478437 DZIP1L Health Risk Pathogenic —
RS768480898 AHCY Health Risk Conflicting classifications of pathogenicity Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS768481542 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS768482110 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS768482115 NEK8 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS768482776 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Inborn genetic diseases
RS768482972 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS768483065 LZTS1 Health Risk Conflicting classifications of pathogenicity —
RS768483175 ABCA3 Health Risk Pathogenic/Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS768485016 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS768485124 GBE1 Health Risk Likely pathogenic Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15
RS768485269 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS768485560 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS768485587 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 8, Retinitis pigmentosa
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