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
RS758051329 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS758051786 TBX6 Health Risk Pathogenic Spondylocostal dysostosis 5, Spondylocostal dysostosis 5
RS758051959 BRCA2 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Hereditary cancer-predisposing syndrome
RS758052437 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS75805245 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758052634 IFT140 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 80, Retinal dystrophy
RS758054052 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Primary dilated cardiomyopathy
RS758054171 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS758054913 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS758055364 LIFR Health Risk Pathogenic/Likely pathogenic Cervical cancer, Stüve-Wiedemann syndrome 1
RS758055753 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS758056561 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS758056583 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS758057228 CEP250 Health Risk Pathogenic —
RS758057774 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS758057846 DSCAML1 Health Risk Conflicting classifications of pathogenicity —
RS758057930 GTPBP3 Health Risk Likely pathogenic See cases, See cases
RS758058076 WNK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pseudohypoaldosteronism type 2B
RS758058521 ASL Health Risk Likely pathogenic —
RS758058910 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS758061248 CNGB3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758061831 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS758062617 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS758064613 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Skeletal dysplasia
RS758066597 TAF1 Health Risk Conflicting classifications of pathogenicity —
RS758067709 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS758069019 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS758069398 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS758070332 LAMA5 Health Risk Likely pathogenic Developmental disorder, Developmental disorder
RS758073166 MYO18B Health Risk Conflicting classifications of pathogenicity —
RS758073208 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS758073557 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS758073965 ADA Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS758074713 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Inborn genetic diseases
RS758075470 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS758076661 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS758078849 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS758079491 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS758080422 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS758080566 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS758081262 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS758081534 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758083405 USP9X Health Risk Pathogenic Inborn genetic diseases, USP9X-related disorder
RS758083563 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS758085966 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758086020 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS758086677 FASTKD2 Health Risk Conflicting classifications of pathogenicity FASTKD2-related disorder, Combined oxidative phosphorylation deficiency 44
RS758087535 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS758087836 SERPINC1 Health Risk Conflicting classifications of pathogenicity Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS758087862 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS758088548 TARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
RS75808917 TDP1 Health Risk Conflicting classifications of pathogenicity —
RS758090662 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS758091260 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS758091261 RRM2B Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a, Rod-cone dystrophy
RS758091898 PAX2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS758092571 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3
RS758092761 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS758093235 HBA1 Health Risk Likely pathogenic Erythrocytosis, familial
RS758093517 TYRP1 Health Risk Pathogenic —
RS758094020 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS758094541 FASTKD2 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44
RS758095361 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome
RS758096259 COL4A4 Health Risk Conflicting classifications of pathogenicity Microscopic hematuria, Microscopic hematuria
RS758096402 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS758096681 TOPORS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS758097199 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS758098717 ALMS1 Health Risk Pathogenic Alstrom syndrome, Intellectual disability
RS758100348 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS758100382 DHPS Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with seizures and speech and walking impairment, DHPS-related disorder
RS758101035 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes syndrome
RS758101066 SCN5A Health Risk Conflicting classifications of pathogenicity Progressive familial heart block, type 1A
RS758101067 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS758101910 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS758102115 DCT Health Risk Pathogenic Oculocutaneous albinism type 8, Oculocutaneous albinism type 8
RS758102180 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS758104018 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS758105619 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS758105856 MCM7 Health Risk Pathogenic Meier-Gorlin syndrome, 9 conditions
RS758106272 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS758106362 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS758106590 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS758107024 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Abnormality of the musculature
RS758107642 LMBRD1 Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS758108369 HTRA2 Health Risk Conflicting classifications of pathogenicity Parkinson disease 13, autosomal dominant
RS758108455 EIF2AK3 Health Risk Pathogenic —
RS758109676 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS758109813 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS758109864 DNAI2 Health Risk Likely pathogenic Primary ciliary dyskinesia, Respiratory ciliopathies including non-CF bronchiectasis
RS758110629 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis
RS758110675 TERT Health Risk Conflicting classifications of pathogenicity 7 conditions, Dyskeratosis congenita
RS758111285 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS758111714 DOCK7 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 23
RS758111969 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS758112271 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS758112770 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Neurodevelopmental delay
RS758112779 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS758113478 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 6 conditions
RS758115945 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, TYR-related disorder
RS758116389 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
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