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
RS536522617 PRRC2B Health Risk Conflicting classifications of pathogenicity —
RS536534531 BLTP2 Health Risk Conflicting classifications of pathogenicity —
RS536550976 PDE6D Health Risk Pathogenic Joubert syndrome 22, Joubert syndrome 22
RS536552621 CABP4 Health Risk Conflicting classifications of pathogenicity —
RS536554704 INVS Health Risk Conflicting classifications of pathogenicity Infantile nephronophthisis, Nephronophthisis
RS536554790 TTN Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS536555705 SLC26A1 Health Risk Conflicting classifications of pathogenicity Hypersulfaturia, Nephrolithiasis susceptibility caused by SLC26A1
RS536557651 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS536561101 ZNF408 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 6, Retinal dystrophy
RS536567108 COQ9 Health Risk Conflicting classifications of pathogenicity —
RS536570392 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS536571390 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS536578692 WDR62 Health Risk Likely pathogenic —
RS536586591 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS536588176 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS536593247 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS536596969 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS536601676 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS536602504 DNAH9 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS536607503 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS536611911 SHOC2 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome-like disorder with loose anagen hair 1
RS536615203 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS536622788 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal macular dystrophy type 2, Stargardt disease 4
RS536634033 BRD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS536634385 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS536638039 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, HNF1B-related disorder
RS536639583 HOXD13 Health Risk Conflicting classifications of pathogenicity Synpolydactyly type 1, Brachydactyly type E1
RS536644825 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS536645864 TTN Health Risk Conflicting classifications of pathogenicity —
RS536657086 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS536657204 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS536661123 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS536673957 PPP1R13L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS536675517 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS536677256 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS536684123 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS536687809 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS536688211 AMH Health Risk Conflicting classifications of pathogenicity AMH-related disorder, AMH-related disorder
RS536696110 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS536706421 AARS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial disease, Mitochondrial disease
RS536723496 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Mitchell syndrome
RS536725615 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Ehlers-Danlos syndrome
RS536728645 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS536728682 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS536742386 PDE6B Health Risk Likely pathogenic Progressive cone dystrophy (without rod involvement), Rod-cone dystrophy
RS536744826 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS536746031 KCNA1 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 1, Episodic ataxia type 1
RS536746349 DGUOK Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
RS536752090 LRRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS536758248 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS536758576 NDUFV1 Health Risk Pathogenic Leigh syndrome, Mitochondrial complex I deficiency
RS536765190 RAX Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 3, RAX-related disorder
RS536767538 TMPRSS6 Health Risk Pathogenic —
RS536775508 MYSM1 Health Risk Pathogenic —
RS536786554 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS536794545 RNF216 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
RS536799104 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS536814318 HMBS Health Risk Conflicting classifications of pathogenicity Acute intermittent porphyria, Acute intermittent porphyria
RS536823549 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS536826731 SLC27A5 Health Risk Conflicting classifications of pathogenicity —
RS536847466 COQ9 Health Risk Conflicting classifications of pathogenicity —
RS536848431 ABCA1 Health Risk Conflicting classifications of pathogenicity —
RS536853368 LARS2 Health Risk Likely pathogenic Perrault syndrome 4, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
RS536856848 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS536864160 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS536869186 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS536874549 GP1BB Health Risk Pathogenic Thrombocytopenia, Bernard Soulier syndrome
RS536882233 HSPG2 Health Risk Conflicting classifications of pathogenicity HSPG2-related disorder, HSPG2-related disorder
RS536884553 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS536894832 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS536901634 ENPP1 Health Risk Conflicting classifications of pathogenicity —
RS536906561 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS536907995 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS536917758 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS536928726 LRP5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS536932803 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS536933380 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS536934629 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS536935095 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS536942937 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS536962908 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS536963649 HEPACAM Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts, Intellectual disability
RS537001725 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS537002656 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS537013895 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS537026414 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS537034419 ASPM Health Risk Conflicting classifications of pathogenicity —
RS537037014 EPB41 Health Risk Likely pathogenic EPB41-related disorder, EPB41-related disorder
RS537038850 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS537043237 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Abnormality of the nervous system
RS537046144 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder
RS537049075 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS537057233 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Inborn genetic diseases
RS537060488 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS537063695 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, TTC19-related disorder
RS537066687 GFPT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS537067344 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Cardiomyopathy
RS537071956 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS537072819 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS537078152 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
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