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
RS750393418 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS750394268 VAPB Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 8, Adult-onset proximal spinal muscular atrophy
RS750394475 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS750396156 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS750396637 EVC2 Health Risk Pathogenic Jeune thoracic dystrophy, Ellis-van Creveld syndrome
RS75039782 CFTR Health Risk Pathogenic Cystic fibrosis, Hereditary pancreatitis
RS750398883 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS75039907 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Retinal dystrophy
RS750399134 MTOR Health Risk Conflicting classifications of pathogenicity —
RS750399917 STAT5B Health Risk Likely pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS750400501 BCAT2 Health Risk Conflicting classifications of pathogenicity —
RS750401200 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS750402363 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome
RS750402920 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS750404000 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS750404832 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS750405773 IGFALS Health Risk Conflicting classifications of pathogenicity Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS750406193 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS750407488 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS750407517 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS750408092 RAB34 Health Risk Likely pathogenic Jeune thoracic dystrophy, Orofaciodigital syndrome 20
RS750408108 BLK Health Risk Conflicting classifications of pathogenicity —
RS750409379 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 1
RS750410479 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS750410843 ENPP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS750411964 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS750413238 CSF1R Health Risk Conflicting classifications of pathogenicity Parkinsonian disorder, Inborn genetic diseases
RS750413412 EIF2B4 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS750413473 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS750414160 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS750415021 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS750415265 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS750416999 C5 Health Risk Likely pathogenic Complement component 5 deficiency, Eculizumab
RS750417849 TRAPPC6B Health Risk Pathogenic —
RS750418747 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS750418813 AIFM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency
RS750419527 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS750419825 FN1 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS750420028 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
RS750420071 ASNS Health Risk Pathogenic/Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS750420130 MUC16 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS750421671 RASA1 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation syndrome, Nonpapillary renal cell carcinoma
RS750421791 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS750422335 PGAM2 Health Risk Likely pathogenic Rhabdomyolysis, Rhabdomyolysis
RS750424357 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS750424494 SLC12A1 Health Risk Pathogenic —
RS750425112 FBN2 Health Risk Conflicting classifications of pathogenicity FBN2-related disorder, Congenital contractural arachnodactyly
RS750425291 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS750425667 CDK13 Health Risk Conflicting classifications of pathogenicity CDK13-related disorder, CDK13-related disorder
RS750427423 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS750427647 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS750428278 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS750428882 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases
RS750429255 FLNB Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type I, Inborn genetic diseases
RS750430725 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS750430784 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS750431739 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS750431938 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS750433247 SOS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS750433723 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Congenital cerebellar hypoplasia
RS750433951 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS750435043 TTN Health Risk Conflicting classifications of pathogenicity —
RS750435648 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS750436246 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS750436297 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS750436680 B9D2 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 34
RS750438076 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS750439376 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS750440690 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS750441093 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Inborn genetic diseases
RS750441217 SLC5A2 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Inborn genetic diseases
RS750441497 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS750441954 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS750442312 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 8
RS750442854 UNC80 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental delay, Neurodevelopmental delay
RS750443041 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS750443621 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS750443804 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS750444649 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS750444774 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS750444836 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Inborn genetic diseases
RS750447037 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS750447792 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS750447828 HSPA1L Health Risk association Inflammatory bowel disease 1, Inflammatory bowel disease 1
RS750447918 CYP1B1 Health Risk Likely pathogenic Anterior segment dysgenesis 6, Anterior segment dysgenesis 6
RS750448421 PJVK Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS750448899 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS750449050 FAM161A Health Risk Pathogenic —
RS750450365 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS750450803 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750451480 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS750451693 CP Health Risk Likely pathogenic Inborn genetic diseases, Deficiency of ferroxidase
RS750451819 ALG1 Health Risk Pathogenic/Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS750451843 TAF2 Health Risk Conflicting classifications of pathogenicity Microcephaly-thin corpus callosum-intellectual disability syndrome, Microcephaly-thin corpus callosum-intellectual disability syndrome
RS750452808 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome, Usher syndrome
RS750453538 UGT1A1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS750453761 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Progressive familial heart block type IB
RS750453909 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS750456621 CNGA3 Health Risk Likely pathogenic —
RS750457181 ACVR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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