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
RS1193918618 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1193948667 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1193951296 DPP9 Health Risk Conflicting classifications of pathogenicity Hatipoglu immunodeficiency syndrome, Hatipoglu immunodeficiency syndrome
RS1193962006 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Undetermined early-onset epileptic encephalopathy
RS1193996130 IQCB1 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Senior-Loken syndrome 5
RS1193998170 NDUFAF6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 17
RS1194018304 ATP8B1 Health Risk Likely pathogenic ATP8B1-related disorder, ATP8B1-related disorder
RS1194024312 COQ8A Health Risk Likely pathogenic COQ8A-related disorder, Hepatocellular carcinoma
RS1194031580 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1194043670 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1194065369 MYO6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1194065564 GDF5 Health Risk Pathogenic/Likely pathogenic —
RS1194072973 TTLL5 Health Risk Likely pathogenic —
RS1194084403 NHLRC1 Health Risk Likely pathogenic Lafora disease, Lafora disease
RS1194089098 PARN Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1194108487 ZNF292 Health Risk Likely pathogenic —
RS1194131222 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1194139877 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1194157372 WNK1 Health Risk Pathogenic Pseudohypoaldosteronism type 2C, Neuropathy
RS1194186968 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS1194187379 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS1194199486 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Inborn genetic diseases
RS1194223999 TERT Health Risk Pathogenic/Likely pathogenic Acute myeloid leukemia, Idiopathic Pulmonary Fibrosis
RS1194226000 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1194234452 MED17 Health Risk Likely pathogenic —
RS1194236664 SKIC3 Health Risk Pathogenic —
RS1194239835 SNAPC4 Health Risk Likely pathogenic Neurodevelopmental disorder with motor regression, progressive spastic paraplegia
RS1194259722 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1194266904 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1194269620 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1194279553 COL11A2 Health Risk Pathogenic —
RS1194283484 BLOC1S6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS1194286714 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1194291909 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS1194295774 NLRP2 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 18, Oocyte/zygote/embryo maturation arrest 18
RS1194309134 EMILIN1 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS1194309507 LMNA Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS1194327802 MMUT Health Risk Likely pathogenic —
RS1194329020 WDR81 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS1194330942 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Hypertrichotic osteochondrodysplasia Cantu type
RS1194348744 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS1194358112 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1194378231 GHR Health Risk Pathogenic Laron-type isolated somatotropin defect, Growth hormone insensitivity syndrome
RS1194387834 TYRP1 Health Risk Pathogenic —
RS1194388677 ATR Health Risk Pathogenic —
RS1194408714 THOC6 Health Risk Pathogenic THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
RS1194444860 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1194453106 CD40 Health Risk Likely pathogenic —
RS1194458561 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS1194460219 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1194460500 SYNE1 Health Risk Likely pathogenic —
RS1194477276 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS1194483230 ADK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1194494050 ADA Health Risk Likely pathogenic SCID due to ADA deficiency, delayed onset
RS119450940 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS119450941 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Inborn genetic diseases
RS119450942 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS119450943 ADSL Health Risk Pathogenic/Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS119450944 ADSL Health Risk Pathogenic/Likely pathogenic Adenylosuccinate lyase deficiency, ADSL-related disorder
RS119450945 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS119451946 PINK1 Health Risk Pathogenic Parkinson disease, autosomal recessive early-onset
RS1194524772 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1194536394 LZTR1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 2, Noonan syndrome 2
RS119454947 CACNA1H Health Risk risk factor Epilepsy, childhood absence
RS119455951 GORAB Health Risk Pathogenic Geroderma osteodysplastica, GORAB-related disorder
RS119455952 GORAB Health Risk Pathogenic/Likely pathogenic Geroderma osteodysplastica, Geroderma osteodysplastica
RS119455953 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis
RS119455954 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis
RS119455955 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis
RS119455956 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS119455957 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS119455958 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis
RS119456959 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 3, Nephronophthisis
RS119456960 NPHP3 Health Risk Pathogenic Nephronophthisis 3, Nephronophthisis 3
RS119456961 NPHP3 Health Risk Pathogenic Nephronophthisis 3, Nephronophthisis
RS119456962 NPHP3 Health Risk Pathogenic NPHP3-related Meckel-like syndrome, Nephronophthisis
RS119456963 NPHP3 Health Risk Conflicting classifications of pathogenicity Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome
RS119456964 NPHP3 Health Risk Pathogenic Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome
RS119456965 SIL1 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS119456966 SIL1 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS119456967 SIL1 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS1194574169 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS1194583771 TG Health Risk Pathogenic —
RS119458969 ETFA Health Risk Pathogenic/Likely pathogenic Glutaric acidemia IIa, Multiple acyl-CoA dehydrogenase deficiency
RS119458970 ETFA Health Risk Pathogenic Glutaric acidemia IIa, Multiple acyl-CoA dehydrogenase deficiency
RS119458971 ETFA Health Risk Likely pathogenic Glutaric acidemia IIa, Multiple acyl-CoA dehydrogenase deficiency
RS1194593234 ALDH18A1 Health Risk Pathogenic ALDH18A1-related de Barsy syndrome, ALDH18A1-related de Barsy syndrome
RS119460972 XDH Health Risk Pathogenic/Likely pathogenic Hereditary xanthinuria type 1, Xanthinuria type II
RS119460973 OSTM1 Health Risk Pathogenic Autosomal recessive osteopetrosis 5, Autosomal recessive osteopetrosis 5
RS1194615408 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS119461974 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS119461975 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS119461976 SECISBP2 Health Risk Conflicting classifications of pathogenicity Thyroid hormone metabolism, abnormal 1
RS119461977 SECISBP2 Health Risk Pathogenic Thyroid hormone metabolism, abnormal 1
RS119462981 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS119462982 POMT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS119462983 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS119462985 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS119462986 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS119462987 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
« Prev 1 ... 223 224 225 226 227 228 229 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →