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
RS527236108 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Thyroid cancer
RS527236109 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236111 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236112 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, RPGR-related retinopathy
RS527236113 SNRNP200 Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236114 SNRNP200 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236115 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS527236116 TOPORS Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236117 TULP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 14
RS527236118 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236120 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236121 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236122 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS527236123 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236124 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236125 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236126 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Leber congenital amaurosis
RS527236127 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236129 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS527236131 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS527236132 ADGRV1 Health Risk Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS527236133 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Rare genetic deafness
RS527236134 MERTK Health Risk Likely pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS527236135 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS527236136 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS527236137 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Rare genetic deafness
RS527236138 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS527236139 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS527236145 COL2A1 Health Risk Pathogenic/Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS527236146 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS527236147 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS527236148 SCN4A Health Risk Pathogenic/Likely pathogenic Hypokalemic periodic paralysis, type 2
RS527236149 SCN4A Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 2
RS527236150 SCN4A Health Risk Pathogenic Hypokalemic periodic paralysis, type 2
RS527236153 KCNJ18 Health Risk risk factor Thyrotoxic periodic paralysis, susceptibility to
RS527236158 KCNJ18 Health Risk risk factor Thyrotoxic periodic paralysis, susceptibility to
RS527236159 KCNJ18 Health Risk risk factor Thyrotoxic periodic paralysis, susceptibility to
RS527236212 SPRTN Health Risk Pathogenic Progeroid features-hepatocellular carcinoma predisposition syndrome, Progeroid features-hepatocellular carcinoma predisposition syndrome
RS527236213 SPRTN Health Risk Pathogenic Progeroid features-hepatocellular carcinoma predisposition syndrome, Progeroid features-hepatocellular carcinoma predisposition syndrome
RS527236214 - Health Risk Pathogenic —
RS527236952 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS527241870 GUCA1B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS527246699 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS527248111 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS527250558 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS527255616 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS527265374 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS527267420 LPL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS527271139 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS527286038 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS527286367 ST3GAL5 Health Risk Conflicting classifications of pathogenicity —
RS527291598 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS527291754 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS527295360 EFHC1 Health Risk Conflicting classifications of pathogenicity Seizure, Myoclonic epilepsy
RS527297896 GFI1B Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17
RS527302772 FSIP2 Health Risk Pathogenic Spermatogenic failure 34, Spermatogenic failure 34
RS527315265 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS527315924 TRMU Health Risk Conflicting classifications of pathogenicity —
RS527322470 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS527336882 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS527346259 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS527356550 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS527358320 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Osteogenesis imperfecta
RS527361141 RBP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS527372531 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Joubert syndrome 21
RS527383658 VPS13C Health Risk Pathogenic —
RS527384137 SCN4A Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 2
RS527387894 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS527394446 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS527404915 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS527410720 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS527412689 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS527414180 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS527416146 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS527416373 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1
RS527418139 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS527420845 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS527421775 FA2H Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 35, Spastic paraplegia
RS527433112 COL5A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Ehlers-Danlos syndrome
RS527433244 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS527435707 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
RS527439925 KRIT1 Health Risk Conflicting classifications of pathogenicity Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation
RS527441189 ELN Health Risk Pathogenic/Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS527442928 METTL23 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 44
RS527449526 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS527451635 PRCD Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 36
RS527454830 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Ovarian cancer
RS527462024 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS527467559 BLTP1 Health Risk Likely pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS527471560 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS527488103 GNAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 8 conditions
RS527488398 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS527492258 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS527501342 FAT3 Health Risk Conflicting classifications of pathogenicity FAT3-related disorder, FAT3-related disorder
RS527501404 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS527503775 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS527505920 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS527512369 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS527513599 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS527516269 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
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