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
RS373270306 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS373270554 SPTBN2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS373270664 SYNE4 Health Risk Pathogenic —
RS373272114 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, Inborn genetic diseases
RS373272174 HPS6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS373272476 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS373272795 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS373273223 ZNF408 Health Risk Pathogenic/Likely pathogenic Exudative vitreoretinopathy 6, Retinal dystrophy
RS373273269 NIPA1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 6, Malignant lymphoma
RS373273976 TAF1 Health Risk Conflicting classifications of pathogenicity —
RS373274501 MTAP Health Risk Conflicting classifications of pathogenicity Diaphyseal medullary stenosis-bone malignancy syndrome, Diaphyseal medullary stenosis-bone malignancy syndrome
RS373274825 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS373275688 CIBAR1 Health Risk Pathogenic Polydactyly, postaxial
RS373276045 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373276784 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS373277092 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype
RS373277285 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS373277508 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373277796 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, 7 conditions
RS373278622 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS373278668 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS373278759 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inborn genetic diseases
RS373279009 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS373279419 VARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS373280339 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS373281009 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS373281760 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS373282263 OAS1 Health Risk Conflicting classifications of pathogenicity —
RS373282364 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2
RS373283173 LAT Health Risk Conflicting classifications of pathogenicity —
RS373284466 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, Inborn genetic diseases
RS373284500 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS373285006 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Inborn genetic diseases
RS373285312 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS373285520 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS373286117 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS373286166 DMD Health Risk Pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS373286506 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS373287445 HTRA1 Health Risk Conflicting classifications of pathogenicity HTRA1-related disorder, HTRA1-related disorder
RS373287455 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS373287522 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS373287823 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS3732880 BCHE Health Risk Pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS373288848 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS373289986 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS373291490 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS373292392 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS373292877 PHIP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373294263 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373294595 CDH23 Health Risk Conflicting classifications of pathogenicity Pituitary adenoma 5, multiple types
RS373295400 CENPF Health Risk Conflicting classifications of pathogenicity Stromme syndrome, CENPF-related disorder
RS373296447 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS373297713 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS373298007 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373298045 FAT4 Health Risk Pathogenic —
RS373298169 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS373298267 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS373298499 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS373299553 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS373300793 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS373301291 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS373301983 RNASEH2A Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS373302409 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373302756 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS373305248 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS373305404 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS373305430 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS373305832 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS373305929 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS373306216 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS373306276 WWOX Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS373306317 SQSTM1 Health Risk Likely pathogenic Paget disease of bone 2, early-onset
RS373306653 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS373307393 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS373308879 CABP4 Health Risk Pathogenic —
RS373310802 FLNC Health Risk Conflicting classifications of pathogenicity FLNC-related disorder, Cardiovascular phenotype
RS373310969 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS373310972 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS373311425 GPI Health Risk Conflicting classifications of pathogenicity Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS373311459 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373311745 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373312648 ZMYND10 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS373312981 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS373313111 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS373313419 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS373315455 SCN11A Health Risk Conflicting classifications of pathogenicity Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7
RS373315577 ETV6 Health Risk Conflicting classifications of pathogenicity ETV6-related disorder, Inborn genetic diseases
RS373315916 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases
RS373316165 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373317695 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS373318465 DOCK8 Health Risk Conflicting classifications of pathogenicity —
RS373318468 CFHR5 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
RS373318861 TPP1 Health Risk Conflicting classifications of pathogenicity —
RS373320584 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 11
RS373320785 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Intellectual disability
RS373320952 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 8 conditions
RS373321719 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS373322071 CLCN7 Health Risk Conflicting classifications of pathogenicity —
RS373322510 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Sarcoma
RS373322978 ITGAM Health Risk Conflicting classifications of pathogenicity —
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