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
RS886060195 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS886060196 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS886060199 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS886060225 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS886060280 GLRA1 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 1, Hereditary hyperekplexia
RS886060284 SGCD Health Risk Conflicting classifications of pathogenicity Qualitative or quantitative defects of delta-sarcoglycan, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS886060339 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS886060366 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS886060380 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS886060383 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS886060395 RETREG1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS886060425 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS886060490 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS886060491 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS886060495 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS886060496 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS886060497 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS886060511 NDUFS6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS886060512 NDUFS6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS886060515 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS886060519 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS886060531 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS886060582 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS886060584 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS886060630 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stüve-Wiedemann syndrome 1
RS886060636 OXCT1 Health Risk Conflicting classifications of pathogenicity Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS886060738 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS886060755 PDE8B Health Risk Conflicting classifications of pathogenicity Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1
RS886060757 PDE8B Health Risk Conflicting classifications of pathogenicity Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1
RS886060807 MTRR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE
RS886060826 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Vitreoretinopathy
RS886060841 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation syndrome
RS886060843 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS886060972 OSTM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
RS886060973 OSTM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 5, OSTM1-related disorder
RS886060985 FIG4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J
RS886060992 COL10A1 Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Schmid type
RS886061009 GJA1 Health Risk Conflicting classifications of pathogenicity Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
RS886061038 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS886061039 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS886061044 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS886061060 ARG1 Health Risk Conflicting classifications of pathogenicity Arginase deficiency, Arginase deficiency
RS886061112 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS886061118 PEX7 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS886061119 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
RS886061120 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
RS886061122 PEX7 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS886061127 IFNGR1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 27A, Disseminated atypical mycobacterial infection
RS886061207 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS886061296 CFB Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
RS886061305 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS886061306 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS886061315 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS886061328 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS886061332 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS886061421 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS886061427 POLR1C Health Risk Pathogenic —
RS886061487 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS886061560 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS886061609 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS886061616 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS886061618 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS886061619 PKHD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS886061621 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS886061623 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS886061666 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS886061668 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS886061671 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS886061675 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS886061678 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS886061680 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS886061682 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS886061683 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS886061687 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS886061708 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Cone-rod dystrophy 7
RS886061744 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS886061745 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS886061747 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Arrhythmogenic right ventricular dysplasia 8
RS886061748 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Lethal acantholytic epidermolysis bullosa
RS886061759 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS886061802 ELOVL4 Health Risk Conflicting classifications of pathogenicity Stargardt disease 3, Stargardt disease 3
RS886061822 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS886061833 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS886061854 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS886061885 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS886061887 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS886061908 DLD Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Pyruvate dehydrogenase complex deficiency
RS886061942 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS886061943 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS886061952 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS886062032 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS886062034 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS886062052 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS886062098 PRKAG2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern
RS886062101 PRKAG2 Health Risk Conflicting classifications of pathogenicity Wolff-Parkinson-White pattern, Hypertrophic cardiomyopathy 6
RS886062129 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS886062134 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS886062136 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS886062272 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy
RS886062274 GARS1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
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