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
RS753073979 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS753074450 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753074829 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS753075262 RPGRIP1L Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS753075410 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS753077104 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS753077813 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS753078041 MICU1 Health Risk Pathogenic —
RS753078534 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS753078725 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia
RS753079378 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753079400 NRAS Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS753080447 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS753081155 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753081347 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS753082620 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS753082880 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis 1
RS753082942 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753083420 H4C5 Health Risk Likely pathogenic —
RS753083913 EXT2 Health Risk Pathogenic Exostoses, multiple
RS753084727 CTSF Health Risk Pathogenic Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13
RS753084997 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS753085009 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS753085250 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome
RS753086299 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS753086873 RGR Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS753086932 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS753087033 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS753090057 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS753090404 RP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 1
RS753090825 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS753092439 ADAMTSL4 Health Risk Pathogenic —
RS753093284 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS753094063 MYPN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1KK
RS753094803 TUBGCP6 Health Risk Pathogenic —
RS753095095 KRT10 Health Risk Conflicting classifications of pathogenicity —
RS753097023 FA2H Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 35, Spastic paraplegia
RS753097258 GABRG2 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS753099787 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS753100456 DIAPH1 Health Risk Pathogenic Neonatal seizure, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS753100746 VPS13A Health Risk Pathogenic —
RS753100961 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases
RS753101269 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS753102215 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS753102574 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS753102653 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS753102706 CBS Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, HYPERHOMOCYSTEINEMIA
RS753103122 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS753104429 ABCB4 Health Risk Conflicting classifications of pathogenicity Low phospholipid associated cholelithiasis, Cholestasis
RS753104655 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, See cases
RS753104670 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS753105114 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS753105655 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS753105795 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS753105796 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753105954 RSPH1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 24
RS753106233 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS753106997 IRAK4 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 67, Immunodeficiency 67
RS753107507 SAG Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 96
RS753108198 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS753110746 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS753112302 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Nephrotic syndrome
RS753112330 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS753112806 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS753113267 MYRF Health Risk Pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS753115080 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS753115471 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS753115579 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS753115642 BCS1L Health Risk Likely pathogenic GRACILE syndrome, GRACILE syndrome
RS753117180 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS753118055 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS753120179 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753120962 COMP Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS753121056 SEPSECS Health Risk Pathogenic —
RS753121062 SVIL Health Risk Pathogenic Myofibrillar myopathy 10, Myofibrillar myopathy 10
RS753121118 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS753121162 SLC7A9 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS753121692 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS753122961 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS753122975 GGCX Health Risk Pathogenic/Likely pathogenic Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Vitamin K-dependent clotting factors
RS753123245 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS753123820 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS753124330 AKR1D1 Health Risk Conflicting classifications of pathogenicity Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
RS753129246 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS753129819 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753130398 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS753130399 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS753130543 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753135006 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS753136249 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS753136638 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS753137017 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS753138577 ANO5 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS753139152 VARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS753140491 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS753141230 SLC17A5 Health Risk Pathogenic/Likely pathogenic Sialic acid storage disease, severe infantile type
RS753141535 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS753144249 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS753145650 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS753146043 SAMD9 Health Risk Conflicting classifications of pathogenicity MIRAGE syndrome, MIRAGE syndrome
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