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
RS766833484 USH2A Health Risk Likely pathogenic —
RS766833528 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS766835582 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS766836061 SLC26A2 Health Risk Pathogenic/Likely pathogenic Sulfate transporter-related osteochondrodysplasia, Atelosteogenesis type II
RS766836202 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS766836952 ZP2 Health Risk Conflicting classifications of pathogenicity —
RS766837403 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS766838320 TMEM107 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766838790 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS766839110 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS766840243 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS766840480 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS766840536 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS766840704 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS766842881 POLG Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Progressive sclerosing poliodystrophy
RS766844065 ECM1 Health Risk Pathogenic Lipid proteinosis, Lipid proteinosis
RS766845407 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766845746 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS766847199 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS766849009 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS766849561 COL11A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 2, Marshall syndrome
RS766849648 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome due to CREBBP mutations
RS766850261 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS766850702 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS766850828 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS76685252 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, APC-Associated Polyposis Disorders
RS766853024 ZNF469 Health Risk Conflicting classifications of pathogenicity ZNF469-related disorder, Cardiovascular phenotype
RS766853150 PRDM5 Health Risk Pathogenic Brittle cornea syndrome 2, Ehlers-Danlos syndrome
RS766853465 MSR1 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS766855850 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS766855879 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases
RS766856111 TP53 Health Risk Conflicting classifications of pathogenicity Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome
RS766856187 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS766856192 ATP6V0A1 Health Risk Pathogenic Neurodevelopmental disorder with epilepsy and brain atrophy, Neurodevelopmental disorder with epilepsy and brain atrophy
RS766856664 SNRNP200 Health Risk Conflicting classifications of pathogenicity —
RS766857175 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS766857244 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS766857802 PRDM5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS766858016 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS766858182 CEP89 Health Risk Conflicting classifications of pathogenicity —
RS766858803 MYO18B Health Risk Pathogenic —
RS766861351 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS766861656 TUB Health Risk Conflicting classifications of pathogenicity TUB-related disorder, TUB-related disorder
RS766862114 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS766862122 CHD7 Health Risk Pathogenic CHARGE syndrome, Inborn genetic diseases
RS766862238 TRPM1 Health Risk Pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS766863440 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS766864711 COL17A1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Amelogenesis imperfecta type 1A
RS766865355 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS766866104 EIF2B3 Health Risk Likely pathogenic Leukoencephalopathy with vanishing white matter 3, Vanishing white matter disease
RS766866459 MYH14 Health Risk Conflicting classifications of pathogenicity —
RS766867890 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS766868484 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS766868824 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS766869538 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS766870171 LAMA3 Health Risk Pathogenic —
RS766871326 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS766872363 OFD1 Health Risk Likely pathogenic Orofaciodigital syndrome I, Joubert syndrome
RS766872386 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS766873320 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS766873519 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS766874168 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS766874330 CRPPA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS76687508 PAH Health Risk Likely pathogenic Phenylketonuria, PAH-related disorder
RS766875357 FANCA Health Risk Pathogenic Fanconi anemia, Inborn genetic diseases
RS766875506 LRRK1 Health Risk Pathogenic Osteosclerotic metaphyseal dysplasia, Osteosclerotic metaphyseal dysplasia
RS766875860 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS766878293 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS766878740 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS766880785 KMT2D Health Risk Conflicting classifications of pathogenicity KMT2D-related disorder, Kabuki syndrome
RS766881629 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS766882348 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS766882379 OAS1 Health Risk Conflicting classifications of pathogenicity —
RS766882873 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS766885114 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS766885168 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS766885690 SLC1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 41
RS766886409 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS766886560 GATA6 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 5, Inborn genetic diseases
RS766888372 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15
RS766888803 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS766889023 CYP2U1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia
RS766889925 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS766890037 LAMB1 Health Risk Pathogenic —
RS766891274 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS766891289 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS766892095 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS766892502 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS766892635 COL2A1 Health Risk Conflicting classifications of pathogenicity COL2A1-related disorder, COL2A1-related disorder
RS766894762 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS766895096 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
RS766896025 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS766896883 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS766897181 ACTL6B Health Risk Pathogenic Developmental and epileptic encephalopathy, 76
RS766897646 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS766897796 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS766898203 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS766898310 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS766899425 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS76690064 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Inborn genetic diseases
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