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
RS201258800 DDHD2 Health Risk Pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS201258822 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS201258823 DPYS Health Risk Pathogenic/Likely pathogenic Dihydropyrimidinase deficiency, Inborn genetic diseases
RS201258878 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS201258910 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS201259497 SLC45A2 Health Risk Conflicting classifications of pathogenicity —
RS201259747 DNM1L Health Risk Pathogenic/Likely pathogenic Encephalopathy, lethal
RS201259963 CCDC88C Health Risk Conflicting classifications of pathogenicity —
RS201260214 DRC1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 21
RS201260442 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, TMPRSS3-related disorder
RS201261159 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS201261243 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS201261415 NT5C2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 45
RS201261436 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS201261500 FOXRED1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201261729 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS201261794 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS201262082 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS201262157 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, SLC22A5-related disorder
RS201262353 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS201262484 RNF43 Health Risk Conflicting classifications of pathogenicity Hyperplastic polyposis syndrome, Hyperplastic polyposis syndrome
RS201262489 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS201262562 HFE Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 1, Hereditary hemochromatosis
RS201262678 NDUFAF5 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 16
RS201263330 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS201263432 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS201263441 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS201263480 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS201263537 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS201263691 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS201263758 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Inborn genetic diseases
RS201264488 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS201265160 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Autosomal dominant distal renal tubular acidosis
RS201265631 PRPF31 Health Risk Pathogenic —
RS201265791 CPA6 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS201266016 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS201266243 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS201266625 PLCE1 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis
RS201266701 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS201266955 SNORD118;TMEM107 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS201267211 SLC6A9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201267349 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS201267638 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS201267786 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS201268555 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial aortopathy
RS201268590 PDZD7 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive
RS201268831 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS201268862 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS201269146 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS201269325 APP Health Risk Conflicting classifications of pathogenicity Cerebral amyloid angiopathy, APP-related
RS201269329 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201269335 SPINK5 Health Risk Pathogenic Netherton syndrome, Ichthyosis linearis circumflexa
RS201269381 PNPT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201269631 MYH9 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, Nephrotic syndrome
RS201269701 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS201269761 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS201269793 CACNA1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS201269904 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome, Inborn genetic diseases
RS201269990 ACSL4 Health Risk Conflicting classifications of pathogenicity —
RS201270451 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS201270568 SEC23B Health Risk Pathogenic/Likely pathogenic Congenital dyserythropoietic anemia, type II
RS201270852 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS201271196 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS201271494 EMC1 Health Risk Pathogenic/Likely pathogenic Cerebellar atrophy, visual impairment
RS201271860 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS201271940 KCNQ4 Health Risk Conflicting classifications of pathogenicity —
RS201272028 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome
RS201272197 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS201272488 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C
RS201272728 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201273283 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS201273368 RTTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201273415 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS201273753 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS201273897 SLC34A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive hypophosphatemic bone disease
RS201273972 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Inborn genetic diseases
RS201274041 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS201274165 ERCC5 Health Risk Conflicting classifications of pathogenicity —
RS201274230 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS201274370 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS201274841 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS201274864 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS201275165 ERBB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201275608 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS201275792 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS201276068 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, King Denborough syndrome
RS201276188 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS201276725 LMOD2 Health Risk Pathogenic Cardiomyopathy, dilated
RS201277352 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS201277370 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS201277460 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS201277546 GJC2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS201277639 NME8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 6, NME8-related disorder
RS201277979 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201278080 DLST Health Risk Conflicting classifications of pathogenicity —
RS201278290 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS201278558 SLC1A4 Health Risk Pathogenic Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Inborn genetic diseases
RS201278620 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS201278621 HES7 Health Risk Conflicting classifications of pathogenicity HES7-related disorder, Inborn genetic diseases
RS201279073 FOXA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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