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
RS368615806 CFI Health Risk Pathogenic/Likely pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13
RS368615862 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS368618083 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, LYST-related disorder
RS368619022 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS368619665 STX1B Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 9
RS368619946 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS368621387 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS368621811 PDE6A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS368622067 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS368622356 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS368624188 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS368625295 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS368625962 HPDL Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS368626712 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS368626849 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS368627125 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Retinal dystrophy
RS368629638 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, ITGB2-related disorder
RS368629982 SLC12A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368630854 BMPR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Primary pulmonary hypertension
RS368631059 TMC8 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS368631447 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS368631495 STK4 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to STK4 deficiency, Inborn genetic diseases
RS368631612 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS368632078 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS368633281 OTOF Health Risk Conflicting classifications of pathogenicity —
RS368633311 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
RS368634423 UNC80 Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS368635334 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS368636311 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368636457 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS368637145 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Cholangiocarcinoma
RS368637389 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS368637540 GALE Health Risk Likely pathogenic UDPglucose-4-epimerase deficiency, GALE-related disorder
RS368638181 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS368639052 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368639377 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Congenital nephrotic syndrome
RS368639697 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS368640705 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS368641858 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS368641951 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS368642083 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS368644722 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS368644959 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368645570 TPP2 Health Risk Conflicting classifications of pathogenicity Evans syndrome, immunodeficiency
RS368646447 FGD1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS368646630 ARHGEF1 Health Risk Conflicting classifications of pathogenicity —
RS368647424 SLC25A1 Health Risk Conflicting classifications of pathogenicity D, L-2-hydroxyglutaric aciduria
RS368647502 PITX2 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, Axenfeld-Rieger syndrome type 1
RS368648130 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS368648424 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS368649260 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis-Noonan syndrome, Neurofibromatosis
RS368649599 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 2, Hereditary cancer-predisposing syndrome
RS368651226 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A1-related disorder
RS368651695 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
RS368652620 CIBAR1 Health Risk Pathogenic Postaxial polydactyly type A, Polydactyly
RS368653287 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS368653860 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS368654019 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS368654378 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS368654512 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS368654781 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS368654972 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368655821 ANO3 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Inborn genetic diseases
RS368656047 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS368656084 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS368656954 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS368657015 MYO7A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2
RS368657165 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS368658464 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Cardiomyopathy
RS368658599 LAMA1 Health Risk Conflicting classifications of pathogenicity —
RS368659701 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368660900 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS368660987 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS368661339 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS368661376 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia
RS368661456 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, CLN6-related disorder
RS368661822 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS368662693 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS368663649 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS368664039 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS368664174 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS368664839 MYO18B Health Risk Conflicting classifications of pathogenicity MYO18B-related disorder, Inborn genetic diseases
RS368664931 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS368666328 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS368666457 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS368666554 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS368667118 MYO15A Health Risk Conflicting classifications of pathogenicity MYO15A-related disorder, Inborn genetic diseases
RS368667473 ABCA1 Health Risk Conflicting classifications of pathogenicity —
RS368668756 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS368669045 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS368669121 FA2H Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 35, Spastic paraplegia
RS368669131 SYNE4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 76, Autosomal recessive nonsyndromic hearing loss 76
RS368669579 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS368671582 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS368671859 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS368674617 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS368675734 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Isolated focal cortical dysplasia type II
RS368675850 USH2A Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 2A
RS368676008 NBEA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NBEA-related disorder
RS368676576 GATAD2B Health Risk Conflicting classifications of pathogenicity —
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