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
RS746020725 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS74602141 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS746021869 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS746022197 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS746022915 PPP1R12A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746023380 LOXHD1 Health Risk Conflicting classifications of pathogenicity —
RS746023653 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS746023979 TG Health Risk Pathogenic —
RS746024122 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS746025177 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS746026526 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Breast-ovarian cancer
RS746026558 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS746026845 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS746027915 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS746028168 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS746028762 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS746031226 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746031284 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, Inborn genetic diseases
RS746031384 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS746032367 ASCC3 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 81
RS746032983 TRAPPC2 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia tarda, Spondyloepiphyseal dysplasia tarda
RS746033038 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746033950 HIVEP2 Health Risk Pathogenic Intellectual disability, autosomal dominant 43
RS746035610 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS746035909 SH2D1A Health Risk Pathogenic X-linked lymphoproliferative disease due to SH2D1A deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency
RS746036083 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS746036349 EPG5 Health Risk Pathogenic/Likely pathogenic Vici syndrome, Vici syndrome
RS746036694 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS746036918 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS746037337 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS74603784 PAH Health Risk Likely pathogenic Phenylketonuria, Inborn genetic diseases
RS746037872 GRN Health Risk Pathogenic Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS746037899 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS746040003 RASA3 Health Risk Pathogenic Short stature, Short stature
RS746040843 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS746043871 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS746044783 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS746045424 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS746045584 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS746046215 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS746046225 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS746047600 LRP2 Health Risk Pathogenic —
RS746047636 ELOVL4 Health Risk Pathogenic Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
RS746049858 DNAH1 Health Risk Pathogenic/Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS746050475 GJC2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, GJC2-related disorder
RS746050594 RAD21 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 4
RS746050665 TYRP1 Health Risk Pathogenic —
RS746051220 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS746051777 MYO7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746052951 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS746053039 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746053679 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
RS746053763 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS746054643 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS746055240 SLC13A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 25
RS746055250 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS746055369 MYO3A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS746055479 NOD2 Health Risk Pathogenic Behcet disease, Behcet disease
RS746056280 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica
RS746056671 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS746057093 AAAS Health Risk Pathogenic/Likely pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS746057464 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS746057710 TBC1D24 Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS746058354 UBE3B Health Risk Pathogenic/Likely pathogenic Oculocerebrofacial syndrome, Kaufman type
RS746058773 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS746059113 NPHP3 Health Risk Pathogenic Nephronophthisis 3, Nephronophthisis 3
RS746059124 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS746059690 QRICH1 Health Risk Pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS746059848 ATP8B1 Health Risk Pathogenic —
RS746060136 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS746060505 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS746060762 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Inborn genetic diseases
RS746060886 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS746063269 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746063338 FAM20A Health Risk Pathogenic/Likely pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS746064480 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS746067447 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS746067825 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS746067865 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746068577 PRDM5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS746068882 KIAA0753 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Jeune thoracic dystrophy
RS746069709 TTLL5 Health Risk Pathogenic —
RS746069907 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS746069957 TEK Health Risk Conflicting classifications of pathogenicity Multiple cutaneous and mucosal venous malformations, Inborn genetic diseases
RS746070443 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS746070652 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS746070910 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS746071223 VCAN Health Risk Conflicting classifications of pathogenicity Wagner disease, Wagner disease
RS74607124 FLVCR1 Health Risk Conflicting classifications of pathogenicity Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
RS746071518 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS746071929 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS746071945 REDIC1 Health Risk Pathogenic Spermatogenic Failure, Spermatogenic Failure
RS746072884 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS746073643 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS746074230 EPG5 Health Risk Likely pathogenic EPG5-related disorder, EPG5-related disorder
RS746075271 UBQLN2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
RS746075396 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746075428 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS746075630 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS746076695 EOGT Health Risk Likely pathogenic Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
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