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
RS549874193 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Ehlers-Danlos syndrome
RS549877950 AGTPBP1 Health Risk Conflicting classifications of pathogenicity Neurodegeneration, childhood-onset
RS549883296 ORAI1 Health Risk Conflicting classifications of pathogenicity Myopathy, tubular aggregate
RS549887751 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS549894501 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS549903844 F5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS549907428 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS549915384 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS549918589 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS549929887 MCPH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS549931193 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS549932754 RAX2 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 11, Cone-rod dystrophy 11
RS549952317 SOS1 Health Risk Pathogenic RASopathy, RASopathy
RS549956055 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS549964658 HBD Health Risk Conflicting classifications of pathogenicity Delta-beta-thalassemia, HBD-related disorder
RS549977217 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Disorder of lung
RS549982601 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Senior-Loken syndrome 4
RS549983245 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS550006406 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS550008432 NDUFAF2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS550013624 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS550024569 DOK7 Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS550025279 SPEG Health Risk Conflicting classifications of pathogenicity SPEG-related disorder, Myopathy
RS550027519 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS550031006 BRIP1 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS550032922 ELAC2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS550033087 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS550037937 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS550038952 CHD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS550039968 HTRA1 Health Risk Conflicting classifications of pathogenicity Macular degeneration, Macular degeneration
RS550046293 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS550047043 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS550048787 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS550057119 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS550060811 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases
RS550068559 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS550073023 PRF1 Health Risk Pathogenic/Likely pathogenic Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2
RS550079487 KYNU Health Risk Pathogenic/Likely pathogenic Vertebral, cardiac
RS550084361 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS550085228 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS550088634 CYP2U1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, CYP2U1-related disorder
RS550096037 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS550100215 EVC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS550100640 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS550109690 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS550122375 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS550136320 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS550137245 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS550137256 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS550141841 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS550152153 SERPINH1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 10, Osteogenesis imperfecta
RS550153707 COL11A2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 53, Autosomal recessive nonsyndromic hearing loss 53
RS550161377 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability
RS550180529 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
RS550187024 GPHN Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases
RS550191337 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS550191566 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS550195743 TEX15 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 25, Spermatogenic failure 25
RS550196955 WARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
RS550204540 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS550205958 LMNB1 Health Risk Conflicting classifications of pathogenicity Adult-onset autosomal dominant demyelinating leukodystrophy, Adult-onset autosomal dominant demyelinating leukodystrophy
RS550208733 DSE Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type 2
RS550211338 RRP1B Health Risk Conflicting classifications of pathogenicity —
RS550212683 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS550213627 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS550221570 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS550235275 KMT2A Health Risk Conflicting classifications of pathogenicity KMT2A-related disorder, Inborn genetic diseases
RS550254092 CTNS Health Risk Pathogenic/Likely pathogenic Nephropathic cystinosis, Ocular cystinosis
RS550254165 ADCY5 Health Risk Conflicting classifications of pathogenicity ADCY5-related disorder, ADCY5-related disorder
RS550262133 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS550263442 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS550282581 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS550285671 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS550285672 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS550286836 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y
RS550289472 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS550296441 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS550300834 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS550301037 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS550306157 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS550306731 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Inborn genetic diseases
RS550311179 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS550312355 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS550322372 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS550325115 RAB3GAP1 Health Risk Conflicting classifications of pathogenicity —
RS550333338 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS550348868 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, Hyperinsulinemic hypoglycemia
RS550349189 CTNND2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS550358395 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Osteogenesis imperfecta
RS550362834 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS550371466 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS550384315 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS550385131 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS550385924 PTEN Health Risk Conflicting classifications of pathogenicity —
RS550387143 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS550400764 IGFN1 Health Risk Conflicting classifications of pathogenicity —
RS550402717 SIX5 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
RS550411377 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS550414401 EDAR Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Ectodermal dysplasia 10A
RS550415126 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency
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