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
RS780566776 ODAD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS780568525 NR5A1 Health Risk Conflicting classifications of pathogenicity Non-obstructive azoospermia, Spermatogenic failure 8
RS780569107 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS780569169 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS780569649 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Inborn genetic diseases
RS780570235 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
RS780570757 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS780570825 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS780571098 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS780571371 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS780571501 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS780572757 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS780572767 COA7 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS780572928 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS780573479 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS780573521 CHD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital ocular coloboma
RS780573740 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780573822 CPAP Health Risk Conflicting classifications of pathogenicity —
RS780574093 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases
RS780574282 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS780575399 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Holoprosencephaly 11
RS780576140 HK1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with visual defects and brain anomalies, Retinal dystrophy
RS780576185 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa
RS780578350 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS780578391 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS780578479 LRAT Health Risk Pathogenic Leber congenital amaurosis 14, Leber congenital amaurosis 14
RS780578509 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS780578894 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS780579562 PIKFYVE Health Risk Likely pathogenic Fleck corneal dystrophy, Fleck corneal dystrophy
RS780579655 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS780579848 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS780580344 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS780580712 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS780580887 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa, Leber congenital amaurosis 8
RS780581250 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS780581302 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS780581800 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS780582491 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS780582849 EDA Health Risk Likely pathogenic —
RS780582885 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, Inborn genetic diseases
RS780583951 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS780584405 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS780585710 PCARE Health Risk Likely pathogenic —
RS780586313 RPIA Health Risk Conflicting classifications of pathogenicity Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
RS780587095 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS780587933 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS780588364 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS780589159 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS780589733 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780592540 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C
RS780593265 COA7 Health Risk Likely pathogenic —
RS780593419 GALC Health Risk Likely pathogenic —
RS780594308 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS780594361 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS780594709 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS780594725 NUP188 Health Risk Pathogenic Sandestig-stefanova syndrome, Sandestig-stefanova syndrome
RS780595278 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS780595297 ADAMTS19 Health Risk Pathogenic Cardiac valvular dysplasia 2, Cardiac valvular dysplasia 2
RS780595770 MRPL3 Health Risk Pathogenic —
RS780596734 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS780597341 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
RS780597592 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS780597629 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS780598553 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Gastric cancer
RS780599681 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS780600124 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS780601499 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS780603629 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS780603742 FASTKD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780603746 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfocysteinuria
RS780604625 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS780607306 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS780608299 CARMIL2 Health Risk Likely pathogenic Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS780609058 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS780609120 MYO7A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Usher syndrome type 1B
RS780609314 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS780609527 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Inborn genetic diseases
RS780609668 TMPRSS3 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS780609795 DLL1 Health Risk Conflicting classifications of pathogenicity —
RS780610411 COL18A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780611200 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS780611537 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS780611797 FLVCR2 Health Risk Likely pathogenic —
RS780612692 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS780613380 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS780613456 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Thrombocytopenia 2
RS780614131 CRY1 Health Risk association Sleep-wake schedule disorder, delayed phase type
RS780615780 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS780615798 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS780617240 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS780617943 EPOR Health Risk Conflicting classifications of pathogenicity Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
RS780618366 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780619649 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS780619951 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS780620823 CRPPA Health Risk Conflicting classifications of pathogenicity Congenital Muscular Dystrophy, alpha-dystroglycan related
RS780621488 GABRB1 Health Risk Conflicting classifications of pathogenicity —
RS780621780 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS780622472 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS780622565 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS780623622 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
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