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
RS747938605 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS747939733 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS747939816 SDHA Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS747940150 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS747940330 OCA2 Health Risk Likely pathogenic —
RS74794071 CATSPER1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 7, Spermatogenic failure 7
RS747940807 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS747940875 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS747941115 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS747942388 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS747943045 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS747943621 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS747944333 VPS35 Health Risk Conflicting classifications of pathogenicity Parkinson disease 17, Parkinson disease 17
RS747946229 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS747946275 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS747946828 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS747947002 PPM1D Health Risk Pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Inborn genetic diseases
RS747947171 PGAM2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type X, Glycogen storage disease type X
RS747947483 PLN Health Risk Pathogenic Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P
RS747947642 NTRK1 Health Risk Pathogenic/Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS747949207 TONSL Health Risk Pathogenic —
RS747950242 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease 3
RS747951577 GUCY2D Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS747951988 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747952058 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS747952317 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS747952522 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747953273 SMPD4 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with microcephaly, arthrogryposis
RS747953768 ALG3 Health Risk Pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS747954279 EYA4 Health Risk Pathogenic Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS747955135 CDH23 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Pituitary adenoma 5
RS747956260 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS747956311 HPD Health Risk Pathogenic/Likely pathogenic Tyrosinemia type III, Hawkinsinuria
RS747956412 BCS1L Health Risk Likely pathogenic Mitochondrial complex III deficiency nuclear type 1, Mitochondrial complex III deficiency nuclear type 1
RS747956457 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS747956782 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS747956857 PLAA Health Risk Pathogenic Neurodevelopmental disorder with progressive microcephaly, spasticity
RS747957553 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS747958554 USB1 Health Risk Pathogenic/Likely pathogenic Poikiloderma with neutropenia, USB1-related disorder
RS747960015 CDHR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747961230 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS747962927 ACTL6B Health Risk Conflicting classifications of pathogenicity —
RS747962998 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS747964752 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS747965171 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS747965344 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS747965676 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS747965749 CYP2U1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 56
RS747965765 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS747967832 KDM6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747968386 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS747968405 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS747969201 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Inborn genetic diseases
RS747969932 TSC1 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Tuberous sclerosis 1
RS747970185 PDE6B Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS747971039 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS747971442 ROBO2 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 2, Vesicoureteral reflux 2
RS747972265 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS747972920 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747973076 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS747974206 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS747974626 ILK Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy
RS747974933 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS747975445 ADAMTS3 Health Risk Pathogenic Hennekam lymphangiectasia-lymphedema syndrome 3, Inborn genetic diseases
RS747975797 HCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HCN1-related disorder
RS747976486 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS747978443 IL2RB Health Risk Likely pathogenic —
RS747978928 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS747980515 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS747980975 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS747981483 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS747983616 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS747984529 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, SGCA-related disorder
RS747985440 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neuroblastoma
RS747985669 HADHA Health Risk Pathogenic/Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS747989049 F7 Health Risk Conflicting classifications of pathogenicity Congenital factor VII deficiency, Congenital factor VII deficiency
RS747989932 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS747990127 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS747990150 ZNF462 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747990896 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747990992 PPM1D Health Risk Likely pathogenic —
RS747992951 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS747993448 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS747993489 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS747993775 CPAP Health Risk Pathogenic/Likely pathogenic Microcephaly 6, primary
RS747994845 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS74799487 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS747995413 RNASEH2B Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 2, Inborn genetic diseases
RS747995562 PRDM12 Health Risk Conflicting classifications of pathogenicity Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases
RS747995722 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS747996482 ISCA2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS74799832 RET Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia type 2B, Thyroid carcinoma
RS747998566 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy 2
RS748000458 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS748001988 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS748003452 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS748004231 AAAS Health Risk Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS748005072 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS748005137 ZCCHC8 Health Risk Conflicting classifications of pathogenicity —
RS748005374 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
« Prev 1 ... 3162 3163 3164 3165 3166 3167 3168 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →