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
RS755654853 EDAR Health Risk Likely pathogenic Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A
RS755654915 LHCGR Health Risk Likely pathogenic LHCGR-related disorder, LHCGR-related disorder
RS755655527 WDR73 Health Risk Likely pathogenic —
RS755655903 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Seizure
RS755656180 VPS13C Health Risk Pathogenic/Likely pathogenic Autosomal recessive early-onset Parkinson disease 23, Autosomal recessive early-onset Parkinson disease 23
RS755656678 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755657932 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS755657969 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Fanconi anemia
RS755658678 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS755659037 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS755659741 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS755660222 POMT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS755660496 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS755660659 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS755660899 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS755660948 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS755661115 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS755661819 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS755664216 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS755665894 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS755665899 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS755666127 ATP8B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755666654 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS755667439 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS755667590 LIFR Health Risk Pathogenic —
RS755667636 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS755667663 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS755669336 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS755669455 KAT6A Health Risk Pathogenic Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS755669902 COL7A1 Health Risk Pathogenic 7 conditions, 7 conditions
RS755669926 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS755670651 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS755671269 RTTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755671694 PDSS2 Health Risk Conflicting classifications of pathogenicity —
RS755672192 KANK2 Health Risk Conflicting classifications of pathogenicity —
RS755672814 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS755672868 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS755673462 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS755674457 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS755676676 TTN Health Risk Conflicting classifications of pathogenicity —
RS755676779 PRDM5 Health Risk Pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS755678310 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS755678482 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, Inborn genetic diseases
RS755679221 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755680047 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS755681036 MTTP Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS755681347 SKIC3 Health Risk Pathogenic/Likely pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS755681714 CSF1R Health Risk Conflicting classifications of pathogenicity —
RS755682241 DRC4 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
RS755685473 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS755686224 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS755686359 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS755686699 PHEX Health Risk Pathogenic —
RS755686768 C2CD3 Health Risk Likely pathogenic Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
RS755688765 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS755688912 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS755689589 FREM2 Health Risk Pathogenic —
RS755690994 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755691060 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS755691417 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS755691445 DOCK2 Health Risk Pathogenic DOCK2 deficiency, DOCK2 deficiency
RS755693106 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755693286 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS755693369 USH2A Health Risk Pathogenic/Likely pathogenic —
RS755693576 SEMA4A Health Risk Conflicting classifications of pathogenicity —
RS755693770 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS755693951 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS755694066 TMC1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Autosomal recessive nonsyndromic hearing loss 7
RS755694590 AQP2 Health Risk Pathogenic/Likely pathogenic Diabetes insipidus, nephrogenic
RS755694640 EXT1 Health Risk Pathogenic Exostoses, multiple
RS755697363 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS755698372 KCNH2 Health Risk Pathogenic —
RS755698791 SMO Health Risk Pathogenic Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
RS755698899 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS755699416 IFITM5 Health Risk Conflicting classifications of pathogenicity —
RS755699992 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS755700079 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS755700206 ZDHHC9 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type
RS755700350 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS755700581 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS755700844 RFWD3 Health Risk Conflicting classifications of pathogenicity —
RS755700896 B3GALT6 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylodysplastic type
RS755701957 PMP22 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS755702632 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS755704105 ACTL7A Health Risk Pathogenic Spermatogenic failure 86, Spermatogenic failure 86
RS755704180 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS755704498 EIF2AK3 Health Risk Pathogenic —
RS755705038 ASNS Health Risk Likely pathogenic —
RS755706305 JAK3 Health Risk Pathogenic/Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS755706526 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS755707625 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS755708141 VPS13A Health Risk Pathogenic —
RS755709270 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS755709525 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS755709669 FOXP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755709828 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
RS755710040 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS755710579 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS755711135 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS755711481 PYCR1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, Cutis laxa
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