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
RS375523121 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS375523467 LAMA5 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, Inborn genetic diseases
RS375523653 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375523747 PGM3 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 23, Inborn genetic diseases
RS375524122 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS375524303 OTC Health Risk Conflicting classifications of pathogenicity Global developmental delay, Hyperammonemia
RS375524982 CHRNA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy
RS375525174 SETD1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375525278 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Left ventricular noncompaction 10
RS375526246 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS375527061 OBSCN Health Risk Pathogenic —
RS375527314 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS375527461 SLC1A3 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 6, Episodic ataxia type 6
RS375527837 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS375529211 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS375531411 COA8 Health Risk Conflicting classifications of pathogenicity —
RS3755319 UGT1A1 Health Risk Pathogenic Lucey-Driscoll syndrome, Lucey-Driscoll syndrome
RS375533809 TTN Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS375534027 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS375534041 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS375535042 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS375535283 CCDC50 Health Risk Conflicting classifications of pathogenicity —
RS375537832 USP9X Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 99
RS375538420 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375538532 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS375538882 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS375539469 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 45, Retinitis pigmentosa
RS375539799 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS375540141 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS375541717 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375542420 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375542454 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS375542827 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS375543045 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS375543158 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, PRDM16-related disorder
RS375543783 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS375545532 CDH23 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS375545757 MYO3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375547142 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Cardiomyopathy
RS375547282 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS375547664 RERE Health Risk Conflicting classifications of pathogenicity Developmental disorder, Inborn genetic diseases
RS375548129 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS375548374 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS375548657 TPP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TPP1-related disorder
RS375550588 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, RASopathy
RS375550686 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1
RS375552160 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS375552481 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS375552552 SLC24A1 Health Risk Pathogenic —
RS375553171 ADAMTS1 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS375553553 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS375553630 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS375554369 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Hereditary spastic paraplegia
RS375554612 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, Inborn genetic diseases
RS375554772 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS375555428 C5 Health Risk Pathogenic —
RS375555497 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Familial Mediterranean fever
RS375555515 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS375555532 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS375556579 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS375556869 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS375557093 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS375557173 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS375558499 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS375560135 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS375561490 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS375562245 CTSF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS375562377 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS375563605 ABCG8 Health Risk Conflicting classifications of pathogenicity ABCG8-related disorder, Sitosterolemia 1
RS375563631 GPR143 Health Risk Conflicting classifications of pathogenicity —
RS375564091 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS375565047 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder
RS375565646 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS375565845 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS375566261 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS375567377 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375568532 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS375569766 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS375570393 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS375571032 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome
RS375571785 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS375573770 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS375573788 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A
RS375573910 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS375574283 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS375576259 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS375576418 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS375576430 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS375577182 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS375577529 TTN Health Risk Conflicting classifications of pathogenicity —
RS375579096 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia, ASS1-related disorder
RS375579333 LHX3 Health Risk Conflicting classifications of pathogenicity Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies
RS375579623 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Inborn genetic diseases
RS375581809 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS375582184 TRPM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375582374 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis
RS375582388 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS375583449 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS375586063 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS375586129 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
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