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
RS202125502 NLRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202125581 CEP135 Health Risk Conflicting classifications of pathogenicity Microcephaly 8, primary
RS202125585 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS202125600 DLEC1 Health Risk Conflicting classifications of pathogenicity —
RS202126269 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS202126574 RDH12 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 53, Retinitis pigmentosa
RS202126861 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Cardiomyopathy
RS202127176 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS202127301 CD27 Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 2, Autoinflammatory syndrome
RS202127474 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS202127751 IDH3B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, IDH3B-related disorder
RS202127939 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Inborn genetic diseases
RS202128129 HGSNAT Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 73, Mucopolysaccharidosis
RS202128350 ALOX12B Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS202128397 CRB2 Health Risk Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis 9, Steroid-resistant nephrotic syndrome
RS202128855 BSND Health Risk Conflicting classifications of pathogenicity Bartter disease type 4A, Inborn genetic diseases
RS202129021 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS202129203 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Ovarian cancer
RS202129382 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS202129528 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS202129717 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS202130220 AP3B2 Health Risk Conflicting classifications of pathogenicity —
RS202130407 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202130413 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Inborn genetic diseases
RS202130526 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, TRPM1-related disorder
RS202130794 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS202131052 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases
RS202131129 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS202132383 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS202132393 FGG Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, Congenital afibrinogenemia
RS202132436 NBPF15 Health Risk Conflicting classifications of pathogenicity —
RS202132558 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS202132584 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS202132957 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS202133351 PSEN2 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 4, Dilated cardiomyopathy 1V
RS202133740 MYO18B Health Risk Conflicting classifications of pathogenicity MYO18B-related disorder, Inborn genetic diseases
RS202133782 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS202133880 LAMA1 Health Risk Conflicting classifications of pathogenicity Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS202134146 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, Inborn genetic diseases
RS202134230 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS202134424 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Autoinflammatory syndrome
RS202134501 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS202135090 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS202135107 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMB2-related disorder
RS202135204 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS202135215 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex
RS202135641 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS202135871 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS202136156 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS202137113 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS202138002 P2RX2 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 41, Autosomal dominant nonsyndromic hearing loss 41
RS202138276 PGK1 Health Risk Conflicting classifications of pathogenicity Hereditary skeletal muscle disorder, Hereditary skeletal muscle disorder
RS202138550 CTC1 Health Risk Pathogenic/Likely pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS202139170 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS202139330 NEB Health Risk Conflicting classifications of pathogenicity Progressive proximal muscle weakness, Limb pain
RS202139349 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS202139499 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS202139668 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS202139830 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS202139846 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS202139926 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS202140203 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS202140393 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS202140402 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS202140956 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS202141158 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS202141173 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS202141372 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS202141422 BMPER Health Risk Conflicting classifications of pathogenicity Diaphanospondylodysostosis, Inborn genetic diseases
RS202141423 MYL3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy
RS202141567 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS202141656 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, ABCA12-related disorder
RS202141819 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS202141932 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS202142174 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS202142344 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS202142867 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS202143056 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS202143169 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS202143236 PFKM Health Risk Pathogenic Peroxisomal biogenesis disorder 3b, Glycogen storage disease
RS202143516 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Brugada syndrome
RS202143667 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, Childhood onset hearing loss
RS202143849 COL9A2 Health Risk Conflicting classifications of pathogenicity COL9A2-related disorder, Inborn genetic diseases
RS202143851 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-related disorder
RS202144045 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A
RS202144137 UBE3B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Oculocerebrofacial syndrome
RS202144329 POC5 Health Risk Conflicting classifications of pathogenicity —
RS202144744 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202144797 ACO2 Health Risk Conflicting classifications of pathogenicity —
RS202144877 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS202144949 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS202144980 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS202145000 PDP1 Health Risk Conflicting classifications of pathogenicity —
RS202145037 ABCA13 Health Risk Conflicting classifications of pathogenicity —
RS202145169 SFTPC Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS202145311 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS202145313 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS202145435 OSMR Health Risk Conflicting classifications of pathogenicity Amyloidosis, primary localized cutaneous
RS202145480 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS202145628 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
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