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
RS755206242 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS755206422 SMO Health Risk Conflicting classifications of pathogenicity Curry-Jones syndrome, Curry-Jones syndrome
RS755208325 ADAMTS17 Health Risk Likely pathogenic —
RS755208949 PYROXD1 Health Risk Pathogenic Myofibrillar myopathy 8, Myofibrillar myopathy 8
RS755209169 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS755209182 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS755210880 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS755211647 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS755211944 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 6
RS755212646 FOCAD Health Risk Conflicting classifications of pathogenicity —
RS755212969 CDK13 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, dysmorphic facial features
RS755213908 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755214552 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS755214586 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS755215116 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS755215178 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS755215367 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS755216120 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, TNPO3-related disorder
RS755216810 MCM4 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
RS755217589 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, Inborn genetic diseases
RS755218546 covers 10 genes, none of which curated to show dosage sensitivity Health Risk Conflicting classifications of pathogenicity Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome
RS755218835 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS755219421 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Nance-Horan syndrome
RS755219790 CYBC1 Health Risk Likely pathogenic —
RS755219802 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS755221106 CACNA1G Health Risk Pathogenic Spinocerebellar ataxia type 42, Spinocerebellar ataxia 42
RS755221482 BRCA1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Hereditary cancer-predisposing syndrome
RS755221742 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, Malignant hyperthermia
RS755222145 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755222515 AHCY Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rhabdomyolysis
RS755222875 NDUFS6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS755222977 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS755223158 GUCY2D Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS755223611 RRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Noonan syndrome
RS755224034 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS755225286 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS755226061 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS755226463 PIEZO1 Health Risk Conflicting classifications of pathogenicity Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
RS755226547 AR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Androgen resistance syndrome
RS755227053 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS755227074 ATP2A1 Health Risk Pathogenic/Likely pathogenic Brody myopathy, Brody myopathy
RS755227076 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS755227174 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS755227541 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS755229056 IARS2 Health Risk Conflicting classifications of pathogenicity Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
RS755229386 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS755229531 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS755230915 DGKE Health Risk Likely pathogenic Immunoglobulin-mediated membranoproliferative glomerulonephritis, Immunoglobulin-mediated membranoproliferative glomerulonephritis
RS755231246 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS755231595 ABCA12 Health Risk Pathogenic —
RS755232267 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS755233004 COL4A4 Health Risk Likely pathogenic Benign familial hematuria, Benign familial hematuria
RS755233845 SOS2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 9
RS755233964 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS755234198 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome
RS755234697 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS755235380 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Hereditary cancer-predisposing syndrome
RS755235399 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS755235783 COL4A3 Health Risk Pathogenic —
RS755236236 COLQ Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS755237333 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS755237394 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS755238050 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS755238456 CERKL Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 26
RS755239192 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS755240438 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS755240882 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS755243916 PPP2R5D Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Acute myeloid leukemia
RS755243947 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS755244502 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS755244582 ALPK3 Health Risk Pathogenic —
RS755244997 COL17A1 Health Risk Pathogenic —
RS755245061 HSD3B7 Health Risk Likely pathogenic —
RS755245286 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Inborn genetic diseases
RS755246809 AHI1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Joubert syndrome 3
RS755246924 TSEN2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia
RS7552471 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS755247580 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS755248868 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS755250590 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS755252506 SLC20A2 Health Risk Pathogenic/Likely pathogenic SLC20A2-related disorder, Idiopathic basal ganglia calcification 1
RS755253225 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS755253527 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS755254043 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS755254230 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS755256285 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS755256552 NFIX Health Risk Conflicting classifications of pathogenicity —
RS755256694 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 7 conditions
RS755256833 ABCA1 Health Risk Conflicting classifications of pathogenicity —
RS755257605 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS755257734 NAGS Health Risk Pathogenic/Likely pathogenic Hyperammonemia, type III
RS75525811 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, DBT-related disorder
RS755258233 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS755259997 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS755260088 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS755260464 PADI6 Health Risk Likely pathogenic Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
RS755261062 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS755261571 RNF168 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755262343 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS755263300 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
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