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
RS377495735 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS377496105 LTBP3 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases
RS377496676 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS377496852 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, BCKDHA-related disorder
RS377497122 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related disorder
RS377497287 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial DNA depletion syndrome 1
RS377497967 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
RS377499122 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS377499258 GTPBP2 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS377500336 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS377500777 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS377500825 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS377501585 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS377502207 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS377502239 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS377502779 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS377503100 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS377503376 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS377503687 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
RS377503881 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Inborn genetic diseases
RS377504041 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS377504106 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS377505638 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS377506142 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS377506846 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS377507553 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS377507565 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS377507763 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS377509077 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS377509915 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS377510027 DARS1 Health Risk Conflicting classifications of pathogenicity Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS377510220 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS377511303 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS377511396 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377511733 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS377512675 TTN Health Risk Conflicting classifications of pathogenicity —
RS377513504 PRKAR1A Health Risk Conflicting classifications of pathogenicity Acrodysostosis 1 with or without hormone resistance, Carney complex
RS377515417 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS377516509 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS377517076 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS377517686 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS377518118 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS377518545 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS377518755 ACO2 Health Risk Pathogenic/Likely pathogenic —
RS377519272 GUSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 7, Uterine corpus endometrial carcinoma
RS377519506 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS377521258 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS377521547 HADH Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS377521708 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tibial muscular dystrophy
RS377523400 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS377524932 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS377525741 ITGA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377525753 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS377525832 CPAMD8 Health Risk Conflicting classifications of pathogenicity Anterior segment dysgenesis 8, Inborn genetic diseases
RS377527446 UBA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Infantile-onset X-linked spinal muscular atrophy
RS377527583 AIFM1 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Bieganski type
RS377528325 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS377528494 SOX11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS377528704 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS377528991 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13
RS377529060 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS377529198 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Bardet-Biedl syndrome 14
RS377529304 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377529350 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS377531244 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS377532485 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS377532898 ERCC2 Health Risk Pathogenic/Likely pathogenic Malignant tumor of urinary bladder, Cerebrooculofacioskeletal syndrome 2
RS377533926 SCN1A Health Risk Likely pathogenic —
RS377534006 ALAD Health Risk Conflicting classifications of pathogenicity Porphobilinogen synthase deficiency, ALAD-related disorder
RS377534690 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS377535161 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome
RS377535267 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS377535272 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS377535370 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS377535397 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS377535841 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS377536301 ESRRB Health Risk Conflicting classifications of pathogenicity —
RS377536482 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS377536938 PDE8B Health Risk Conflicting classifications of pathogenicity Autosomal dominant striatal neurodegeneration type 1, Inborn genetic diseases
RS377537585 SELENON Health Risk Conflicting classifications of pathogenicity SEPN1-related disorder, Eichsfeld type congenital muscular dystrophy
RS377538048 GABRB1 Health Risk Conflicting classifications of pathogenicity —
RS377539343 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS377539525 DNHD1 Health Risk Likely pathogenic —
RS377539686 NSD1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, NSD1-related disorder
RS377539747 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Amyotrophic lateral sclerosis
RS377539769 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS377539902 FOXI1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS377539940 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS377540152 WASHC5 Health Risk Pathogenic Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS377540463 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377540500 RERE Health Risk Conflicting classifications of pathogenicity —
RS377542011 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS377543079 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS377543974 CELSR2 Health Risk Conflicting classifications of pathogenicity CELSR2-related disorder, CELSR2-related disorder
RS377544135 WFS1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
RS377544304 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS377546036 CANT1 Health Risk Pathogenic Desbuquois dysplasia 1, Epiphyseal dysplasia
RS377546733 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS377546846 PCGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377547988 MVK Health Risk Conflicting classifications of pathogenicity Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
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