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
RS555522972 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS555534138 PLOD2 Health Risk Conflicting classifications of pathogenicity Bruck syndrome 2, Bruck syndrome 2
RS555534597 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS555539811 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS555547573 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS555554134 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS555555534 TTN Health Risk Conflicting classifications of pathogenicity —
RS555557314 WDR19 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS555563029 NODAL Health Risk Likely pathogenic Visceral heterotaxy, Visceral heterotaxy
RS555564479 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS555566878 OTOF Health Risk Likely pathogenic —
RS555577161 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS555582398 NEB Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy 2
RS555583101 ERMARD Health Risk Conflicting classifications of pathogenicity ERMARD-related disorder, ERMARD-related disorder
RS555590913 CCDC39;TTC14 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14, Primary ciliary dyskinesia 14
RS555596737 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS555600300 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 40
RS555600636 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS555603514 CYLD Health Risk Conflicting classifications of pathogenicity Familial multiple trichoepitheliomata, Familial cylindromatosis
RS555607708 CHEK2 Health Risk Pathogenic CHEK2-related cancer predisposition, Hereditary cancer-predisposing syndrome
RS555614149 NPR2 Health Risk Conflicting classifications of pathogenicity Tall stature-scoliosis-macrodactyly of the great toes syndrome, Acromesomelic dysplasia 1
RS555619019 LAMC3 Health Risk Conflicting classifications of pathogenicity —
RS555635097 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS555641774 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Inborn genetic diseases
RS555646012 C2CD3 Health Risk Conflicting classifications of pathogenicity —
RS555652075 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS555659148 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS555680585 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS555681479 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, 6 conditions
RS555682061 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS555689284 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS555692728 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS555703777 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS555710402 MPDU1 Health Risk Conflicting classifications of pathogenicity MPDU1-congenital disorder of glycosylation, Inborn genetic diseases
RS555719562 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS555734325 SLC7A9 Health Risk Pathogenic —
RS555749038 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS555750413 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS555751342 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS555755221 CEP290 Health Risk Pathogenic Joubert syndrome 5, Meckel-Gruber syndrome
RS555768104 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, GRIN2A-related complex neurodevelopmental disorder
RS555774342 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS555784791 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS555785323 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS555789981 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS555792435 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Joubert syndrome 8
RS555794809 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS555799779 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS555800735 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS555811074 DYNC2I2 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Short-rib thoracic dysplasia 11 with or without polydactyly
RS555822164 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS555829802 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS555833838 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS555858151 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Inborn genetic diseases
RS555860015 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa
RS555866170 ASPM Health Risk Conflicting classifications of pathogenicity Autosomal recessive primary microcephaly, Microcephaly 5
RS555874983 FA2H Health Risk Likely pathogenic Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
RS555881834 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS555882903 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS555890962 RMRP Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, McKusick type
RS555896752 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS555901678 TTN Health Risk Conflicting classifications of pathogenicity —
RS555904044 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS555906969 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS555908807 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-related disorder
RS555916014 PPM1K Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, mild variant
RS555920534 MAGEL2 Health Risk Conflicting classifications of pathogenicity —
RS555920594 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS555922726 LRP2 Health Risk Pathogenic —
RS555930471 CSTB Health Risk Conflicting classifications of pathogenicity Unverricht-Lundborg syndrome, Progressive myoclonic epilepsy
RS555944438 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS555944888 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS555946635 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS555959123 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS555976050 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS555981231 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1DD
RS555992573 FAT1 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, Inborn genetic diseases
RS555995940 CUL3 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2E
RS555997335 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia
RS556000493 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS556001110 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS556002453 CHST14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type
RS556004917 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS556010695 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS556015191 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS556017565 DSG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS556019320 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS556023617 COL2A1 Health Risk Conflicting classifications of pathogenicity Kniest dysplasia, COL2A1-related disorder
RS556026559 COX15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS556031779 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS556046793 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS556060060 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS556060696 GALNS Health Risk Conflicting classifications of pathogenicity Abnormality of metabolism/homeostasis, Mucopolysaccharidosis
RS556074974 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS556078854 AMH Health Risk Conflicting classifications of pathogenicity —
RS556079869 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS556086584 HBA1 Health Risk Conflicting classifications of pathogenicity —
RS556093537 PER3 Health Risk Conflicting classifications of pathogenicity Advanced sleep phase syndrome 3, PER3-related disorder
RS556096598 MCM3AP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS556099463 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
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