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
RS759786703 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS759786990 MN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial meningioma
RS759788602 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS759788656 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Cardiovascular phenotype
RS759789024 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS759789707 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS759790041 TRMU Health Risk Pathogenic/Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS759791775 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS759791896 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS759792044 SNAP29 Health Risk Pathogenic —
RS759792085 COL6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS759792321 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS759792491 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS759792660 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS759794043 NEU1 Health Risk Pathogenic —
RS759794876 WWOX Health Risk Pathogenic/Likely pathogenic —
RS759794906 COMP Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS759795841 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS759795923 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS759795928 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS759798627 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS759799179 ABCA4 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 2, Cone-rod dystrophy 3
RS759799287 ARMC9 Health Risk Pathogenic/Likely pathogenic ARMC9-related Joubert syndrome, Joubert syndrome 30
RS759801355 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS759801838 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS759802314 TULP1 Health Risk Pathogenic —
RS759802937 ROBO2 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 2, Congenital anomaly of kidney and urinary tract
RS759803583 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Primary central nervous system lymphoma
RS759803636 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS759803984 ZNF462 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759805962 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS759805984 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS759806010 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5
RS759806045 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Amyotrophic lateral sclerosis type 4
RS759807240 PRPF4 Health Risk Conflicting classifications of pathogenicity —
RS759807393 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS759807882 LPAR6 Health Risk Pathogenic Hypotrichosis 8, Hypotrichosis 8
RS759807932 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS759808501 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS759809305 TPO Health Risk Pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS759810283 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS759810296 ETHE1 Health Risk Conflicting classifications of pathogenicity Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS759810426 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS759810439 ITGA6 Health Risk Likely pathogenic Clear cell carcinoma of kidney, Clear cell carcinoma of kidney
RS759810756 MYO15A Health Risk Conflicting classifications of pathogenicity Childhood onset hearing loss, Childhood onset hearing loss
RS759813089 CD46 Health Risk Pathogenic/Likely pathogenic Thrombotic microangiopathy, Familial Atypical Hemolytic-Uremic Syndrome
RS759813328 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS759815314 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS759815616 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS759815955 OCA2 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism, Oculocutaneous albinism
RS759816064 STRC Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 16, Rare genetic deafness
RS759819184 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS759820573 CEP290 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 14, Leber congenital amaurosis 10
RS759820677 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS759820971 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS759821884 IQCE Health Risk Likely pathogenic Polydactyly, postaxial
RS759822181 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS759822213 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS759822330 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS759823665 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS759825628 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS759826090 CREBBP Health Risk Conflicting classifications of pathogenicity CREBBP-related disorder, Rubinstein-Taybi syndrome
RS759826138 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS759826252 CEP152 Health Risk Conflicting classifications of pathogenicity —
RS759826831 TRNT1 Health Risk Conflicting classifications of pathogenicity Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Inborn genetic diseases
RS759826878 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS759827115 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS759828394 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS759828439 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS759829934 LIG4 Health Risk Pathogenic/Likely pathogenic DNA ligase IV deficiency, Multiple myeloma
RS759830423 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2
RS759830598 SCYL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS759830733 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS759832450 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Inborn genetic diseases
RS759832527 SMARCA2 Health Risk Conflicting classifications of pathogenicity —
RS759832744 SLC1A4 Health Risk Pathogenic —
RS759833850 SLC5A7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 20, Neuronopathy
RS759834554 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Inborn genetic diseases
RS759834555 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS759837659 LOXHD1 Health Risk Pathogenic/Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS759837836 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS759838407 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, prenatal LIG4 syndrome with aqueductal stenosis
RS759838598 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS759838977 CDK13 Health Risk Pathogenic Congenital heart defects, dysmorphic facial features
RS759839410 ENO3 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
RS759839534 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS759839781 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Atrial fibrillation
RS759841019 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset
RS759842238 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS759843592 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS759843625 BRAF Health Risk Conflicting classifications of pathogenicity Noonan syndrome 7, LEOPARD syndrome 3
RS759844035 GFAP Health Risk Likely pathogenic Alexander disease, Alexander disease
RS759844257 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS759845943 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS759847914 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS759848796 KIAA1549 Health Risk Likely pathogenic Retinitis pigmentosa 86, Retinitis pigmentosa 86
RS759848847 POMT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS759850328 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS759850701 PPM1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759851035 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
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