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
RS749167827 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749167841 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, AKAP9-related disorder
RS749168085 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS749168952 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS749169391 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS749171049 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS749171144 COX20 Health Risk Likely pathogenic —
RS749171377 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS749172868 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS749174131 RBBP8 Health Risk Likely pathogenic RBBP8-related disorder, RBBP8-related disorder
RS749174434 TPO Health Risk Pathogenic Deficiency of iodide peroxidase, Congenital hypothyroidism
RS749175955 SZT2 Health Risk Pathogenic —
RS749176066 AUTS2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS749176560 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749177032 USH2A Health Risk Conflicting classifications of pathogenicity —
RS749179501 CNGB3 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS749179728 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS749180535 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS749180542 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749180806 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS749182319 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS749183448 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS749184443 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS749187018 GNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS749187042 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS749188610 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS749189234 POLR1C Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS749190523 ZNF335 Health Risk Pathogenic Microcephalic primordial dwarfism due to ZNF335 deficiency, Microcephalic primordial dwarfism due to ZNF335 deficiency
RS749191457 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS749192298 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS749192795 LRPPRC Health Risk Pathogenic —
RS749194310 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS749195619 RP1 Health Risk Pathogenic —
RS749196122 TTC19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial complex III deficiency nuclear type 2
RS749196340 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS749196764 BCS1L Health Risk Pathogenic GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
RS749196803 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS749197190 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS749198171 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS749199433 NDUFA10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS749199519 PRKCG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant cerebellar ataxia
RS749199721 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa
RS749200615 ERCC2 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS749201065 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS749201074 ANKRD11 Health Risk Pathogenic KBG syndrome, Global developmental delay
RS749201239 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS749202132 ASPH Health Risk Pathogenic Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
RS749203329 MLLT1 Health Risk Likely pathogenic 7 conditions, 7 conditions
RS749203752 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS749204574 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS749205073 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS749205120 KCNQ3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Seizures
RS749205522 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS749205983 OTOG Health Risk Conflicting classifications of pathogenicity —
RS749206570 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS749208355 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS749209897 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS749211191 USP53 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS749211387 KCNH2 Health Risk Pathogenic/Likely pathogenic Cardiac arrhythmia, Long QT syndrome
RS749211542 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS749211700 GBA2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS749212402 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS749212640 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS749213303 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS749213415 F10 Health Risk Pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS749213860 EIF2B1 Health Risk Likely pathogenic —
RS749214277 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS749215704 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS749215903 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS749216092 SPEG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749217066 ITGB4 Health Risk Pathogenic Epidermolysis bullosa, junctional 5A
RS749217541 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS749218158 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS749219179 ALOXE3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749220565 ITGA8 Health Risk Likely pathogenic Renal hypodysplasia/aplasia 1, Renal hypodysplasia/aplasia 1
RS749220947 SLC2A10 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome
RS749222606 PDE4D Health Risk Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance, Inborn genetic diseases
RS749223361 PRKCSH Health Risk Likely pathogenic Polycystic liver disease 1, Polycystic liver disease 1
RS749223640 RAG1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS749224036 AKR1D1 Health Risk Pathogenic/Likely pathogenic Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
RS749224419 OR13H1 Health Risk Conflicting classifications of pathogenicity —
RS749224503 TGM5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS749226138 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS749226142 TRPV3 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
RS749226179 NR0B1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hypoplasia, X-linked
RS749226501 PDGFRB Health Risk Conflicting classifications of pathogenicity Acroosteolysis-keloid-like lesions-premature aging syndrome, Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
RS749227042 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS749227753 GBA1 Health Risk Conflicting classifications of pathogenicity —
RS749228276 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS749228986 VARS1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with microcephaly, seizures
RS749229511 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, TCOF1-related disorder
RS749230615 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS749230730 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS749231711 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS749232409 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 65
RS749232831 YY1AP1 Health Risk Pathogenic Grange syndrome, Grange syndrome
RS749233041 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS749233172 FIG4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
RS749233234 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS749234736 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
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