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
RS757363127 COL9A3 Health Risk Pathogenic —
RS757363494 CNNM4 Health Risk Pathogenic —
RS757364157 SETD5 Health Risk Conflicting classifications of pathogenicity SETD5-related disorder, Inborn genetic diseases
RS757364620 MOGS Health Risk Conflicting classifications of pathogenicity MOGS-congenital disorder of glycosylation, Inborn genetic diseases
RS757364858 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS757365085 FLNB Health Risk Conflicting classifications of pathogenicity —
RS757366134 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hyperparathyroidism 1
RS757366208 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS757367635 TUBGCP4 Health Risk Pathogenic —
RS757367795 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS757369063 ERCC1 Health Risk Conflicting classifications of pathogenicity Global proximal tubulopathy, Cholestatic liver disease
RS757369145 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757369209 PPP2R5D Health Risk Pathogenic Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
RS757369551 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS757369691 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS757369748 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pancreatic cancer
RS757369900 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS757370134 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS757370776 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS757371423 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS757371608 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757373061 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS757373375 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS757373736 PNPLA6 Health Risk Likely pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS757373786 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS757374570 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, PRPF31-related disorder
RS757374995 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS757376458 TYRP1 Health Risk Conflicting classifications of pathogenicity —
RS757377081 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS757377110 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS757378039 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS757378668 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS757379111 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS757381398 LAMA3 Health Risk Likely pathogenic —
RS757381520 TTN Health Risk Conflicting classifications of pathogenicity —
RS757382067 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS757382473 PNPLA6 Health Risk Pathogenic —
RS757382637 GRM1 Health Risk Likely pathogenic —
RS757383244 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS757383498 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS757383616 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757385876 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS757386171 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS757388437 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS757389650 RBM20 Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Dilated cardiomyopathy 1DD
RS757390175 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS757391015 PCARE Health Risk Pathogenic —
RS757391108 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS757391405 KERA Health Risk Pathogenic —
RS757391565 SHOX Health Risk Pathogenic/Likely pathogenic Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS757391646 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS757392138 LMBRD1 Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS757392371 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS757393692 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS757393804 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS757394130 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS757394606 GNPTG Health Risk Pathogenic —
RS757394666 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS757394782 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS757396103 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS757396750 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS757398573 SPAG1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 28, SPAG1-related disorder
RS757398839 MED12 Health Risk Pathogenic —
RS757399861 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS757399972 DBH Health Risk Pathogenic/Likely pathogenic Orthostatic hypotension 1, Orthostatic hypotension 1
RS757401069 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS757402291 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS757402424 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS757404057 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS757404275 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS757404475 CD46 Health Risk Conflicting classifications of pathogenicity —
RS757405541 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS757405584 DPH1 Health Risk Pathogenic —
RS757406252 COL7A1 Health Risk Pathogenic COL7A1-related disorder, COL7A1-related disorder
RS757406333 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS757407613 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS757407762 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Inborn genetic diseases
RS757409121 ETFA Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS757409401 ACADVL Health Risk Pathogenic/Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS757410810 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS757411192 ATP5MC3 Health Risk Likely pathogenic ATP5G3-associated disorder, Dystonia
RS757412063 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS757412845 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis 4
RS757413516 POLE Health Risk Conflicting classifications of pathogenicity Inherited polyposis and early onset colorectal cancer - germline testing, Colorectal cancer
RS757413852 PPP1R12A Health Risk Conflicting classifications of pathogenicity —
RS757414862 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS757415879 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS757415923 MYH14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757416132 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS757417271 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS757417962 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS757417973 SLC6A3 Health Risk Conflicting classifications of pathogenicity Parkinsonism-dystonia, infantile
RS757418016 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS757418085 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-related disorder
RS757418364 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS757418440 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS757420624 ZDHHC15 Health Risk Conflicting classifications of pathogenicity —
RS757421220 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
RS757422951 THBD Health Risk Conflicting classifications of pathogenicity Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
RS757423402 NAA15 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 50
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