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
RS535492357 COL4A2 Health Risk Pathogenic —
RS535492772 WHRN Health Risk Conflicting classifications of pathogenicity —
RS535498742 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS535511484 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS535519604 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS535522970 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS535524341 ITPR1 Health Risk Conflicting classifications of pathogenicity —
RS535525554 PSAP Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Sphingolipid activator protein 1 deficiency
RS535527511 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS535533268 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS535546772 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS535547513 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS535553836 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS535557021 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS535561432 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS535561852 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS535563062 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS535576919 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS535577967 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS535580486 CIT Health Risk Likely pathogenic —
RS535585040 ERCC5 Health Risk Conflicting classifications of pathogenicity —
RS535585536 KIF24 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS535592986 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS535594659 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS535606152 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS535608443 CACNA1C Health Risk Conflicting classifications of pathogenicity Brugada syndrome 3, Timothy syndrome
RS535609762 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS535616736 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
RS535621711 NR5A1 Health Risk Conflicting classifications of pathogenicity Oligosynaptic infertility, 46
RS535627239 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS535635043 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS535635403 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS535644999 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS535649291 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
RS535661345 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS535669510 SORD Health Risk Pathogenic —
RS535671373 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS535674229 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases
RS535676910 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKD1-related disorder
RS535692036 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome
RS535692203 CYP2U1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS535695411 RPGRIP1 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS535695655 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS535697514 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS535699185 SYNE1 Health Risk Conflicting classifications of pathogenicity SYNE1-related disorder, Emery-Dreifuss muscular dystrophy 4
RS535703391 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, ATP6V0A2-related disorder
RS535704197 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS535705691 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS535712025 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, RP1L1-related disorder
RS535714073 NDUFA10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS535719220 PLCZ1 Health Risk Pathogenic Spermatogenic failure 17, Spermatogenic failure 17
RS535728519 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, CYP7B1-related disorder
RS535749057 PHKB Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXb, PHKB-related disorder
RS535755402 SYNE1 Health Risk Conflicting classifications of pathogenicity SYNE1-related disorder, Autosomal recessive ataxia
RS535762713 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype
RS535781418 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS535782968 CYP11A1 Health Risk Likely pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS535794692 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS535796173 USH2A Health Risk Conflicting classifications of pathogenicity —
RS535797845 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS535810761 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS535813845 KCNA1 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 1, Episodic ataxia type 1
RS535814707 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS535820581 DLG3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS535822613 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS535825137 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS535831045 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS535845342 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS535847014 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS535853707 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS535866098 COL9A1 Health Risk Conflicting classifications of pathogenicity —
RS535868591 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS535885178 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS535897564 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS535900273 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS535912271 SCYL1 Health Risk Pathogenic/Likely pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, SCYL1-related disorder
RS535918140 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS535921202 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS535922252 RPGRIP1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS535926481 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS535927510 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS535927586 TTN Health Risk Conflicting classifications of pathogenicity —
RS535940583 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS535949676 MCM3AP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS535952730 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS535956121 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS535964972 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, PKD1-related disorder
RS535965616 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS535971512 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Inborn genetic diseases
RS535977033 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS535980233 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Hereditary cancer-predisposing syndrome
RS535983876 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS535986716 BMP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Osteogenesis imperfecta type 13
RS535986790 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS535990034 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS535993919 PROP1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS535994976 RIN2 Health Risk Conflicting classifications of pathogenicity RIN2 syndrome, Inborn genetic diseases
RS536000212 TRIT1 Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, See cases
RS536000259 FGFR1 Health Risk Conflicting classifications of pathogenicity Osteoglophonic dysplasia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS536003119 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
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