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
RS369744075 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS369744528 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS369744590 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS369744828 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS369745372 FBN1 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 1, isolated
RS369746640 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS369747694 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS369747752 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS369748157 WDR81 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS369748510 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369748651 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS369748756 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Erythrokeratodermia variabilis et progressiva 6
RS369750406 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369750762 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS369751106 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS369751310 CACNA1G Health Risk Conflicting classifications of pathogenicity —
RS369751362 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS369754449 FTCD Health Risk Conflicting classifications of pathogenicity Intellectual disability, Glutamate formiminotransferase deficiency
RS369754994 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder
RS369755163 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype
RS369755459 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS369755953 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS369756029 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369758288 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS369759221 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS369759523 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS369759751 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS369760989 C7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369761349 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS369761894 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS369762154 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy
RS369763684 NRAP Health Risk Likely pathogenic —
RS369764135 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS369764220 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS369764257 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS369764291 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369764382 AFF3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369765588 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia
RS369766168 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer
RS369766454 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS369767790 CHL1 Health Risk Conflicting classifications of pathogenicity —
RS369768801 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Melnick-Needles syndrome
RS369768947 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Inborn genetic diseases
RS369769303 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia
RS369770210 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS369770445 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS369770760 SLC34A1 Health Risk Conflicting classifications of pathogenicity —
RS369771822 CTNNB1 Health Risk Conflicting classifications of pathogenicity —
RS369772005 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS369773321 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS369774476 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Developmental and epileptic encephalopathy
RS369774566 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS369774984 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS369775002 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis, Retinitis pigmentosa 12
RS369776766 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Muscular dystrophy
RS369777121 HPS4 Health Risk Pathogenic —
RS369777293 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369777874 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Febrile seizures
RS369778460 GPI Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS369778514 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS369779153 IFT80 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS369779273 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369779779 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS369780574 EEF1D Health Risk Conflicting classifications of pathogenicity —
RS369781295 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS369782445 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS369782677 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369783406 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS369784333 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS369787039 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS369787477 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Inborn genetic diseases
RS369787650 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS369787754 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS369788045 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369789056 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS369789387 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS369789559 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS369789589 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS369790491 COL11A2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 13, Fibrochondrogenesis 2
RS369792296 SP7 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS369792621 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS369793136 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS369793306 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS369793673 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS369794331 TBC1D32 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS369794634 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369795224 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Cataract 41
RS369795637 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS369796183 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS369796561 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS369797361 FKTN Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS369800371 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS369800903 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369801034 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS369801878 DNAH2 Health Risk Pathogenic Spermatogenic failure 45, Spermatogenic failure 45
RS369802087 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS369802222 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS369802454 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS369802820 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS369802930 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
« Prev 1 ... 2647 2648 2649 2650 2651 2652 2653 ... 4509 Next »

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

Get Started Free →