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
RS281875375 ZMPSTE24 Health Risk Pathogenic —
RS281875376 ZMPSTE24 Health Risk Pathogenic Mandibuloacral dysplasia with type B lipodystrophy, Mandibuloacral dysplasia with type B lipodystrophy
RS283413 ADH1C Health Risk risk factor Parkinson disease, mitochondrial
RS28359170 MT-TS2 Health Risk Conflicting classifications of pathogenicity MELAS syndrome, MELAS syndrome
RS28359542 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS28362201 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS28362270 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS28362286 PCSK9 Health Risk Conflicting classifications of pathogenicity Low density lipoprotein cholesterol level quantitative trait locus 1, Hypocholesterolemia
RS28362287 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS28363170 SLC6A3 Health Risk Uncertain risk allele Schizophrenia, Schizophrenia
RS28363303 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS28363307 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS28363394 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder
RS28363549 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, Trimethylaminuria
RS28363595 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, Trimethylaminuria
RS28364528 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Glioma susceptibility 1
RS28364537 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS28364997 SLC6A3 Health Risk Conflicting classifications of pathogenicity Parkinsonism-dystonia, infantile
RS28365106 SCN1B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Generalized epilepsy with febrile seizures plus
RS28365117 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS28365119 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS28365125 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS28365522 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS28369051 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS28369776 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, FBP1-related disorder
RS28371558 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
RS28371562 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
RS28371588 CD55 Health Risk Conflicting classifications of pathogenicity —
RS28372779 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS28377085 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS28377576 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS28383048 SRD5A2 Health Risk Conflicting classifications of pathogenicity 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS28383480 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, High myopia
RS28383481 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS28383585 PCK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS28384199 MT-ND4 Health Risk Likely pathogenic Mitochondrial complex I deficiency, Leigh syndrome
RS28385026 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS28385028 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS28385142 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS28385701 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS28385710 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS28390202 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS2839217 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS28399976 MSH5 Health Risk Conflicting classifications of pathogenicity Genetic non-acquired premature ovarian failure, MSH5-related disorder
RS28400029 COCH Health Risk Conflicting classifications of pathogenicity —
RS28403592 LTBP3 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 3, Brachyolmia-amelogenesis imperfecta syndrome
RS2843959 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS28441537 VSX2 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia
RS28445840 NCF4 Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS2848673 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS28493229 ITPKC Health Risk Conflicting classifications of pathogenicity Reclassified - variant of unknown significance, ITPKC-related disorder
RS28525570 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS2853458 CHRND Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS2853513 - Health Risk association not found Venous thromboembolism, Venous thromboembolism
RS2853574 ABCA1 Health Risk Pathogenic/Likely pathogenic ABCA1-related disorder, ABCA1-related disorder
RS2853578 ABCA1 Health Risk Pathogenic Tangier disease, Tangier disease
RS28538230 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS2854133 MT-ND1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Intellectual disability
RS28544073 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis
RS2855341 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS28555446 TET2 Health Risk Conflicting classifications of pathogenicity TET2-related disorder, TET2-related disorder
RS2855760 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS2855765 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS28562785 OCLN Health Risk Conflicting classifications of pathogenicity Pseudo-TORCH syndrome 1, OCLN-related disorder
RS2856655 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS2856897 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS2857010 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2857400 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS28657708 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS28677142 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS28679680 MT-CO1 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS2870984 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4
RS2870997 PRODH Health Risk Likely pathogenic Proline dehydrogenase deficiency, Schizophrenia 4
RS28730670 PIK3CD Health Risk Likely pathogenic Immunodeficiency 14, Immunodeficiency 14
RS28730708 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS28730768 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiomyopathy
RS28730793 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS28730837 MPO Health Risk Conflicting classifications of pathogenicity Myeloperoxidase deficiency, Myeloperoxidase deficiency
RS28730854 ALMS1 Health Risk Pathogenic Alstrom syndrome, Monogenic diabetes
RS28738719 GFER Health Risk Conflicting classifications of pathogenicity GFER-related disorder, GFER-related disorder
RS28756977 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS28756978 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS28756979 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS28756984 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS28756987 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS28756989 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS28756990 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS28757011 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS28757027 MLH3 Health Risk Conflicting classifications of pathogenicity —
RS28763894 PPARG Health Risk Conflicting classifications of pathogenicity INSULIN RESISTANCE, DIGENIC
RS28763925 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS28763942 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS28763958 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS28763963 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS28763965 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS288326 FRZB Health Risk Benign; risk factor Osteoarthritis susceptibility 1, FRZB-related disorder
RS28897672 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS28897676 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS28897677 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS28897680 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
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