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
RS1425504754 ERF Health Risk Pathogenic/Likely pathogenic TWIST1-related craniosynostosis, Noonan Syndrome-like developmental disorder
RS142550817 DRC2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
RS142551229 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS142551293 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS1425513399 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS142551371 MPDU1 Health Risk Conflicting classifications of pathogenicity MPDU1-congenital disorder of glycosylation, MPDU1-related disorder
RS1425514936 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS142551587 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Duane-radial ray syndrome
RS1425519295 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS142552073 KANK4 Health Risk Conflicting classifications of pathogenicity —
RS1425522784 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS142552959 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, SH3PXD2B-related disorder
RS1425530118 ODC1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with alopecia and brain abnormalities, Inborn genetic diseases
RS142553521 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS142553702 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Inborn genetic diseases
RS142553916 SLC17A5 Health Risk Conflicting classifications of pathogenicity Sialic acid storage disease, severe infantile type
RS1425552175 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS142555732 MAGI2 Health Risk Conflicting classifications of pathogenicity —
RS1425566595 ZNF408 Health Risk Pathogenic Familial exudative vitreoretinopathy, Familial exudative vitreoretinopathy
RS1425572620 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS142557761 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS142558799 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS142558977 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS142559533 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS142560329 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS142560414 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142560894 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS1425609364 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS142561199 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1425613490 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1425615804 HMGCL Health Risk Pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS142562681 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS142563811 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS142563930 DLX3 Health Risk Conflicting classifications of pathogenicity Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, DLX3-related disorder
RS142563956 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, L1CAM-related disorder
RS142565191 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS142565220 MAGI2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome 15, Nephrotic syndrome 15
RS142565472 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS142565774 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS1425658948 TGFB2 Health Risk Likely pathogenic —
RS142566193 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, Inborn genetic diseases
RS1425668712 NEXN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 20, Dilated cardiomyopathy 1CC
RS1425669718 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS142567076 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1425674152 NHLRC2 Health Risk Pathogenic Fibrosis, neurodegeneration
RS142568031 FLNB Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, FLNB-related disorder
RS1425684282 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS142568702 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS1425693814 PKD1 Health Risk Pathogenic PKD1-related disorder, Polycystic kidney disease
RS1425701157 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1425701789 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1425702864 DMD Health Risk Pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS142570406 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS142570561 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS1425716932 CEP290 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS142572218 ADAMTS13 Health Risk Pathogenic/Likely pathogenic Upshaw-Schulman syndrome, Thrombotic thrombocytopenic purpura
RS1425723325 RNASEH2A Health Risk Pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS142572513 EFEMP1 Health Risk Conflicting classifications of pathogenicity Doyne honeycomb retinal dystrophy, Doyne honeycomb retinal dystrophy
RS142573103 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1425732484 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS142573385 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, ABCC2-related disorder
RS142573551 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1425736036 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1425736863 PDSS1 Health Risk Pathogenic Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS142573911 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Inborn genetic diseases
RS142574684 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HUWE1-related disorder
RS142574766 DPYS Health Risk Pathogenic/Likely pathogenic Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
RS142574917 TOR1AIP1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS142575526 HJV Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2A, Hemochromatosis type 2A
RS142575695 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Methylmalonic acidemia
RS1425760255 HPS3 Health Risk Pathogenic —
RS1425769432 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS1425773776 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS142577975 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1425784992 MLC1 Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS142578700 TULP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, TULP1-related disorder
RS1425790333 SUCLA2 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS142579999 OTOA Health Risk Conflicting classifications of pathogenicity —
RS142580483 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1425806314 TSEN54 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142580756 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS1425816147 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS142582318 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS1425827135 CFI Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency
RS1425829432 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS142584479 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS1425855043 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS142585703 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS142585893 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS142586266 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, Inborn genetic diseases
RS1425863340 SQSTM1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS142586585 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS1425873975 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1425877227 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS142587742 ASPM Health Risk Conflicting classifications of pathogenicity —
RS142587760 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS142588621 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS142588921 RMND1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 11, RMND1-related disorder
RS1425905429 KAT6B Health Risk Conflicting classifications of pathogenicity KAT6B-related disorder, Genitopatellar syndrome
RS1425908106 PCARE Health Risk Pathogenic —
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