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
RS376514478 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS376515888 C7 Health Risk Likely pathogenic —
RS376516018 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
RS376516180 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS376517028 DHDDS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS376517147 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS376517859 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS376518010 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS376518465 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS376519545 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS376519914 FLNB Health Risk Conflicting classifications of pathogenicity —
RS376519984 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
RS376520586 KRAS Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Cardiofaciocutaneous syndrome 2
RS376520694 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS376521407 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS376523159 TCOF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Treacher Collins syndrome 1
RS376523966 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS376524608 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS376524625 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS376524884 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS376525317 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS376525602 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS376526037 ERCC6 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, DE SANCTIS-CACCHIONE SYNDROME
RS376526400 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS376526576 RYR1 Health Risk Pathogenic/Likely pathogenic Multiminicore myopathy, Congenital multicore myopathy with external ophthalmoplegia
RS376526633 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS376526724 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS376527094 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376527297 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS376527943 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376527959 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Noonan syndrome and Noonan-related syndrome
RS376528503 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 11, Long QT syndrome
RS376528831 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS376529329 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS376530064 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS376530914 DIABLO Health Risk Conflicting classifications of pathogenicity —
RS376531387 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Inborn genetic diseases
RS376532382 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376532437 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS376532575 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, ABCC2-related disorder
RS376533026 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS376535635 MYO7A Health Risk Pathogenic Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS376535906 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS376536495 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376536525 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS376538198 SCN4A Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 2
RS376539147 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS376539252 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS376539395 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS376540175 ANKRD1 Health Risk Conflicting classifications of pathogenicity ANKRD1-related dilated cardiomyopathy, Cardiovascular phenotype
RS376541043 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 9, Primary ciliary dyskinesia
RS376541112 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS376542524 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS376543931 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Hypertrophic cardiomyopathy 9
RS376544204 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS376545731 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS376545795 FRMPD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS376546593 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS376548186 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS376548316 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS376548563 NDE1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 4, NDE1-related disorder
RS376548651 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS376550450 DNMT3A Health Risk Likely pathogenic —
RS376550779 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Alport syndrome
RS376552408 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS376552785 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS376553350 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta
RS376553923 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Inborn genetic diseases
RS376555002 KIAA0753 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376555091 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS376555665 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS376555896 TMEM231 Health Risk Conflicting classifications of pathogenicity Ciliopathy, Meckel syndrome
RS376556524 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS376556895 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS376557022 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS376558078 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS376558334 KATNB1 Health Risk Likely pathogenic Lissencephaly 6 with microcephaly, KATNB1-related disorder
RS376558549 KIF1B Health Risk Conflicting classifications of pathogenicity KIF1B-related disorder, Neuroblastoma
RS376559049 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS376559614 ADGRV1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS376559986 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS376560330 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS376560786 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS376560886 WAS Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS376561094 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS376561287 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS376561321 DARS2 Health Risk Conflicting classifications of pathogenicity —
RS376562033 TSFM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS376562345 HSD3B7 Health Risk Pathogenic —
RS376564087 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Hearing impairment
RS376564562 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS376564909 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, Irido-corneo-trabecular dysgenesis
RS376565347 AMHR2 Health Risk Pathogenic Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome
RS376565365 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS376565433 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease 2, Hereditary pulmonary alveolar proteinosis
RS376566207 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS376566413 RIMS1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS376566442 DPH5 Health Risk Pathogenic Neurodevelopmental disorder with short stature, prominent forehead
RS376567517 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, PRDM16-related disorder
RS376567898 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
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