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
RS1163162816 WNT10B Health Risk Pathogenic/Likely pathogenic Split hand-foot malformation 6, Split hand-foot malformation 6
RS116316900 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS1163170578 COQ4 Health Risk Conflicting classifications of pathogenicity Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS116317145 AMHR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1163172447 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS116317506 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1163185721 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS116319889 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS116320983 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS116321057 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS1163218519 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS1163221525 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS116322271 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1163223024 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1163242822 TTLL5 Health Risk Pathogenic —
RS1163244913 DSP Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia 8
RS1163252803 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS1163253431 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1163253626 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1163264200 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1163269726 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cockayne syndrome type 2
RS116327839 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS1163280866 ALOXE3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS116329113 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS1163303148 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly, Lissencephaly
RS1163308590 ADGRV1 Health Risk Pathogenic/Likely pathogenic ADGRV1-related disorder, Usher syndrome
RS1163308868 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS116330917 CENPE Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS116331296 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7-related disorder
RS1163340926 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1163344946 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Familial isolated arrhythmogenic right ventricular dysplasia
RS1163346468 LAMB3 Health Risk Pathogenic —
RS1163346501 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1163351205 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1163356968 GLDC Health Risk Pathogenic Glycine encephalopathy, GLDC-related disorder
RS1163368452 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS116338839 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1
RS1163399365 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS116339967 DNAAF4 Health Risk Conflicting classifications of pathogenicity DNAAF4-related disorder, Inborn genetic diseases
RS116340633 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1163419871 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1163458825 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS1163462384 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS116347156 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia of anesthesia, Hypokalemic periodic paralysis
RS1163473923 LARS2 Health Risk Pathogenic/Likely pathogenic —
RS1163477792 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1163486377 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS116348786 C8B Health Risk Conflicting classifications of pathogenicity Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS1163488527 DYSF Health Risk Pathogenic —
RS116349687 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1163497041 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1163522093 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome type 2, Imerslund-Grasbeck syndrome type 2
RS1163525582 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS1163532771 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1163546262 ZNF469 Health Risk Pathogenic —
RS1163546793 ZNF469 Health Risk Pathogenic —
RS116355217 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS116355882 NPAP1 Health Risk Conflicting classifications of pathogenicity —
RS116356543 RHAG Health Risk Conflicting classifications of pathogenicity RHAG-related disorder, RHAG-related disorder
RS1163573848 SLC25A4 Health Risk Pathogenic —
RS1163577336 CLCN7 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS116358011 CC2D2A Health Risk Pathogenic Meckel syndrome, type 6
RS1163583945 MAPK8IP3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS1163596220 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS116360985 BMP1 Health Risk Conflicting classifications of pathogenicity —
RS1163615607 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1163620394 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS116364105 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1163650910 LZTR1 Health Risk Pathogenic LZTR1-related disorder, LZTR1-related disorder
RS116365681 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS1163672028 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS116367260 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS1163673587 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1163683032 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brittle cornea syndrome 1
RS1163698357 WRN Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Werner syndrome
RS1163700577 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1163707779 MCM3AP Health Risk Pathogenic —
RS1163709490 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1163710370 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS116373169 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS1163732372 PIGB Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 80
RS1163745614 COX15 Health Risk Pathogenic —
RS1163766811 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS1163772841 PIEZO1 Health Risk Pathogenic Lymphatic malformation 6, Lymphatic malformation 6
RS1163785853 CSRP3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
RS116378993 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Inborn genetic diseases
RS116380142 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS1163816425 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1163833540 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1163840810 PKD2 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease 2
RS1163854599 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1163861044 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1163866901 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1163874095 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS1163879822 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1163895765 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS116389839 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS116390200 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS116392938 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1163930676 DALRD3 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 86
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