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
RS747563556 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS747564597 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS747564760 FLNB Health Risk Conflicting classifications of pathogenicity —
RS747566295 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome
RS747566528 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS747566710 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS747567057 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS747568295 CYP4F22 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 5, CYP4F22-related disorder
RS747569209 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS747569790 POMGNT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS747570138 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS747570832 GNPTAB Health Risk Pathogenic Mucolipidosis, Mucolipidosis
RS747570982 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Thrombocytopenia 2
RS747571208 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS747571706 NTRK2 Health Risk Pathogenic —
RS747572423 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS747572654 DNAH9 Health Risk Pathogenic —
RS747573633 KIZ Health Risk Pathogenic —
RS747573712 PDHB Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS747574524 ELF2 Health Risk Likely pathogenic Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
RS747574742 FRMPD4 Health Risk Pathogenic Intellectual disability, X-linked 104
RS747574884 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS747575528 DOCK6 Health Risk Pathogenic Adams-Oliver syndrome 2, DOCK6-related disorder
RS747576518 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS747576963 SRRM2 Health Risk Pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS747577673 COASY Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6
RS747578057 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS747578300 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS747579073 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS747579808 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS747579840 TCF3 Health Risk Conflicting classifications of pathogenicity —
RS747580093 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS747580402 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS747580775 TMPRSS3 Health Risk Pathogenic —
RS747581337 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747581764 USH2A Health Risk Pathogenic —
RS747582517 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS747582734 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS74758312 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS747583441 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS747583925 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS747584649 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS747584987 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS747585517 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Congenital anomaly of kidney and urinary tract
RS747587140 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS747587301 CASK Health Risk Pathogenic —
RS747587698 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS747588681 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS747589392 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS747590659 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS747592262 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS747592488 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS747592919 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS747593886 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS747594496 TPP1 Health Risk Conflicting classifications of pathogenicity —
RS747594575 KCNJ1 Health Risk Pathogenic —
RS747594885 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS747595523 ASCC1 Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS747597620 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS747597729 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS747598216 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS747598258 ZBTB18 Health Risk Pathogenic Intellectual disability, autosomal dominant 22
RS747598756 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS747600105 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel syndrome
RS747600863 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS747602505 LAMB2 Health Risk Likely pathogenic Pierson syndrome, Pierson syndrome
RS747602915 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS747603780 ELP1 Health Risk Conflicting classifications of pathogenicity —
RS747604554 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS747604569 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS747605156 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS747605326 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS747606716 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS747606976 COG1 Health Risk Pathogenic/Likely pathogenic COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS747607498 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS747607657 RIMS1 Health Risk Conflicting classifications of pathogenicity —
RS747608147 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases
RS747608945 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS747609336 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS747610090 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS747610107 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS747610156 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS747610703 KCNQ5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 46
RS747612183 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS747613376 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS747613465 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS747614562 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS747614571 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS747614763 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS747615055 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS747615809 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS747616493 SLC1A4 Health Risk Pathogenic Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
RS747616517 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS747616932 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS747617559 ATP13A2 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS747618077 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS747618371 DNA2 Health Risk Conflicting classifications of pathogenicity DNA2-related disorder, DNA2-related disorder
RS747618415 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS747618525 KCNC3 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 13, Tip-toe gait
RS747618610 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
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