SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886052401 ZNF469 Health Risk Conflicting classifications of pathogenicity —
RS886052412 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS886052415 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS886052456 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS886052480 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS886052482 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS886052484 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS886052486 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS886052487 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS886052517 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS886052537 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS886052542 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS886052567 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS886052614 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS886052670 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS886052676 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Rare genetic deafness
RS886052681 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS886052682 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS886052688 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS886052689 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS886052690 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS886052798 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS886052799 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
RS886052800 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis-Noonan syndrome, Neurofibromatosis
RS886052801 NF1 Health Risk Conflicting classifications of pathogenicity Café-au-lait macules with pulmonary stenosis, Neurofibromatosis-Noonan syndrome
RS886052803 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, familial spinal
RS886052887 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS886052888 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS886052890 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS886052891 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS886052892 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS886052917 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS886052923 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS886052943 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS886052955 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Inborn genetic diseases
RS886052974 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS886052982 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS886052997 SLC4A1 Health Risk Pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS886053000 SLC4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant distal renal tubular acidosis, Hemolytic anemia
RS886053069 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS886053126 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS886053171 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 1
RS886053272 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS886053299 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS886053372 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS886053378 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS886053393 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A
RS886053396 TSEN54 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS886053410 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS886053418 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGB4-related disorder
RS886053420 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, Deficiency of galactokinase
RS886053456 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS886053495 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Amyotrophic neuralgia, Amyotrophic neuralgia
RS886053544 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS886053547 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS886053559 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS886053562 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS886053573 ALOX12B Health Risk Conflicting classifications of pathogenicity —
RS886053666 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS886053672 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS886053673 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS886053679 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS886053693 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS886053765 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS886053827 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS886053828 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS886053829 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS886053831 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS886053834 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS886053838 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS886053891 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre syndrome
RS886053893 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS886054012 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS886054013 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS886054132 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, TYK2-related disorder
RS886054155 SMARCA4 Health Risk Conflicting classifications of pathogenicity Obesity, intellectual deficiency
RS886054228 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS886054230 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS886054233 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS886054236 KLF1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4
RS886054243 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS886054247 GAMT Health Risk Pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS886054260 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS886054300 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS886054303 COMP Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS886054335 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS886054336 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS886054356 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS886054385 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS886054388 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS886054395 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS886054396 RYR1 Health Risk Likely pathogenic —
RS886054402 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
RS886054405 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Malignant hyperthermia
RS886054410 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS886054411 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Malignant hyperthermia
RS886054441 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS886054462 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS886054473 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2
RS886054474 ATP1A3 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12
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