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
RS397517989 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome type 2A
RS397517990 USH2A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A
RS397517991 USH2A Health Risk Conflicting classifications of pathogenicity —
RS397517994 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS397518003 USH2A Health Risk Pathogenic Rare genetic deafness, USH2A-related disorder
RS397518008 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS397518009 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS397518010 USH2A Health Risk Likely pathogenic Rare genetic deafness, Usher syndrome
RS397518011 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS397518012 USH2A Health Risk Pathogenic Usher syndrome type 2A, Rare genetic deafness
RS397518013 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS397518014 USH2A;USH2A-AS1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS397518015 USH2A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A
RS397518017 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS397518018 USH2A Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS397518021 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS397518022 USH2A Health Risk Likely pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS397518023 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS397518025 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS397518026 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Retinitis pigmentosa
RS397518029 USH2A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A
RS397518030 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS397518032 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS397518036 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS397518039 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa
RS397518040 USH2A Health Risk Conflicting classifications of pathogenicity —
RS397518041 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Retinitis pigmentosa
RS397518042 USH2A Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS397518043 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS397518046 USH2A Health Risk Pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS397518048 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome
RS397518050 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS397518413 SMAD4 Health Risk Conflicting classifications of pathogenicity Myhre syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS397518414 PCBD1 Health Risk Pathogenic Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RS397518416 PCBD1 Health Risk Pathogenic/Likely pathogenic Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RS397518417 MOCS2 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS397518418 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS397518419 MOCS1 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Combined molybdoflavoprotein enzyme deficiency
RS397518420 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS397518421 PLS3 Health Risk association Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18
RS397518423 PIK3CD Health Risk Pathogenic Immunodeficiency 14, Inherited Immunodeficiency Diseases
RS397518425 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS397518432 CHST14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type
RS397518433 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease type I
RS397518434 GBA1 Health Risk Likely pathogenic Gaucher disease perinatal lethal, Gaucher disease type I
RS397518435 NT5C3A Health Risk Pathogenic Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
RS397518436 NT5C3A Health Risk Pathogenic Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
RS397518437 NT5C3A Health Risk Pathogenic Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
RS397518438 NT5C3A Health Risk Pathogenic Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
RS397518439 PRKN Health Risk Pathogenic Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS397518440 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS397518441 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS397518442 STK11 Health Risk Pathogenic Carcinoma of pancreas, Peutz-Jeghers syndrome
RS397518443 STK11 Health Risk Pathogenic Carcinoma of pancreas, Peutz-Jeghers syndrome
RS397518444 AMH Health Risk Pathogenic Persistent mullerian duct syndrome, type I
RS397518445 MTM1 Health Risk Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy, Centronuclear myopathy
RS397518447 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS397518449 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS397518450 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Inborn genetic diseases
RS397518451 RPL26 Health Risk Pathogenic Diamond-Blackfan anemia 11, Diamond-Blackfan anemia 11
RS397518452 HNRNPA1 Health Risk Likely pathogenic Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
RS397518453 HNRNPA1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 20, Amyotrophic lateral sclerosis type 20
RS397518455 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia 11, Primary ciliary dyskinesia 11
RS397518456 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia 11, Primary ciliary dyskinesia 11
RS397518458 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS397518459 SPAG1 Health Risk Pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 5, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS397518460 GMPPA Health Risk Pathogenic Alacrima, achalasia
RS397518461 GMPPA Health Risk Pathogenic Alacrima, achalasia
RS397518462 GMPPA Health Risk Conflicting classifications of pathogenicity Alacrima, achalasia
RS397518463 PLS3 Health Risk association Bone mineral density quantitative trait locus 18, Bone mineral density quantitative trait locus 18
RS397518464 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, Oculodentodigital dysplasia
RS397518465 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Self-limited epilepsy with centrotemporal spikes
RS397518466 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS397518467 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS397518468 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Seizure
RS397518469 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS397518470 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS397518471 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS397518472 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS397518474 HERC2 Health Risk Pathogenic Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability
RS397518475 ENPP1 Health Risk Pathogenic Hypopigmentation-punctate palmoplantar keratoderma syndrome, Hypopigmentation-punctate palmoplantar keratoderma syndrome
RS397518476 ENPP1 Health Risk Pathogenic Hypopigmentation-punctate palmoplantar keratoderma syndrome, Hypopigmentation-punctate palmoplantar keratoderma syndrome
RS397518477 ENPP1 Health Risk Pathogenic Hypopigmentation-punctate palmoplantar keratoderma syndrome, Hypopigmentation-punctate palmoplantar keratoderma syndrome
RS397518478 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS397518479 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS397518480 ATP6AP2 Health Risk Pathogenic X-linked parkinsonism-spasticity syndrome, X-linked parkinsonism-spasticity syndrome
RS397518481 RARB Health Risk Pathogenic Microphthalmia, syndromic 12
RS397518482 RARB Health Risk Pathogenic Microphthalmia, syndromic 12
RS397518483 RARB Health Risk Pathogenic Microphthalmia, syndromic 12
RS397518484 STRA6 Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS397518485 TRAF3IP2 Health Risk Pathogenic Candidiasis, familial
RS397704705 AP5Z1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 48, Macular dystrophy with or without extraocular features
RS397704709 AP5Z1 Health Risk Pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS397704714 ABHD12 Health Risk Pathogenic PHARC syndrome, PHARC syndrome
RS397704718 FAM161A Health Risk Pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa
RS397704721 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS397704725 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS397704728 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome 15, Bardet-Biedl syndrome 15
RS397769084 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS397978903 UGT1A1 Health Risk Conflicting classifications of pathogenicity Crigler-Najjar syndrome, type II
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