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
RS146831402 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS146832047 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1468320596 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS146832858 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS146832860 DCLRE1C Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, Athabaskan severe combined immunodeficiency
RS146834675 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder
RS146834697 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, ABCA12-related disorder
RS1468349011 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1468358104 FLVCR1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Posterior column ataxia-retinitis pigmentosa syndrome
RS146835830 ZFP57 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS146836923 POLR3B Health Risk association Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS1468372318 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS146837396 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1468382416 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS146838322 TRIT1 Health Risk Conflicting classifications of pathogenicity Macrocephaly, Inborn genetic diseases
RS146838520 RET Health Risk Conflicting classifications of pathogenicity Medullary thyroid carcinoma, Multiple endocrine neoplasia
RS146839243 TRPV3 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases
RS146839563 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS146839668 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS146839867 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Alternating hemiplegia of childhood 1
RS1468401006 KIF1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Hereditary spastic paraplegia 30
RS1468404698 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS146840773 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS1468416468 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS1468418435 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1468426986 SDHC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS1468427986 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS1468432566 CWC27 Health Risk Likely pathogenic —
RS146843542 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS146844078 ORC1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 1, ORC1-related disorder
RS146844731 RLBP1 Health Risk Conflicting classifications of pathogenicity RLBP1-related disorder, RLBP1-related disorder
RS1468452245 TUBB2B Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
RS146845939 CFAP52 Health Risk Conflicting classifications of pathogenicity Situs inversus, Situs inversus
RS146846893 P4HB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146847253 ZMYND10 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 22
RS146848219 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS146848345 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS146848374 POC1A Health Risk Likely pathogenic Cervical cancer, Cervical cancer
RS146849256 FLG Health Risk Conflicting classifications of pathogenicity Ichthyosis vulgaris, Dermatitis
RS146849545 GUCY2D Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS146849758 SNX14 Health Risk Conflicting classifications of pathogenicity SNX14-related disorder, SNX14-related disorder
RS146850714 TEX15 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 25, Spermatogenic failure 25
RS146851019 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS146851340 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS1468526380 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1468529365 LIPT1 Health Risk Likely pathogenic Lipoyl transferase 1 deficiency, Inborn genetic diseases
RS146853061 BIVM-ERCC5;ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS1468533120 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS146854174 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS146854942 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS1468568465 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS146858888 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS146859515 SPTBN2 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14
RS1468599549 PDZD7 Health Risk Pathogenic/Likely pathogenic —
RS1468605569 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1468609625 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS1468613071 KRIT1 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1468615416 HBA2 Health Risk Conflicting classifications of pathogenicity alpha Thalassemia, alpha Thalassemia
RS146861563 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS146861723 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS146861737 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS1468619952 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS146862274 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS146862359 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS146862520 DSG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1468626678 ADGRV1 Health Risk Likely pathogenic —
RS146862861 MTHFD1 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS146862992 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS146863119 CHRNA1 Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Inborn genetic diseases
RS1468631555 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS1468636851 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS146863919 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS146864395 SLC25A38 Health Risk Pathogenic/Likely pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1468648701 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS146865517 TTC21B Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS146865554 FLAD1 Health Risk Conflicting classifications of pathogenicity —
RS1468657712 TRIP12 Health Risk Likely pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS146866423 DGKE Health Risk Conflicting classifications of pathogenicity Kidney disorder, DGKE-related disorder
RS1468670683 RPGR Health Risk Pathogenic X-linked cone-rod dystrophy, X-linked cone-rod dystrophy
RS146867381 STN1 Health Risk Conflicting classifications of pathogenicity STN1-related disorder, STN1-related disorder
RS146867414 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS146867923 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS146868519 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS146869270 TBC1D8B Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 20
RS146869947 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS146870918 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS146870931 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS146871001 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Familial cancer of breast
RS1468715588 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS146872023 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Hereditary spastic paraplegia
RS1468721324 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS146872295 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, STAR-related disorder
RS1468724042 ARX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS1468724704 PEX5 Health Risk Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS1468729123 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS146872991 NLRP7 Health Risk Conflicting classifications of pathogenicity Hydatidiform mole, recurrent
RS1468733041 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS146873712 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1468737207 TELO2 Health Risk Pathogenic —
RS146873772 COL4A5 Health Risk Conflicting classifications of pathogenicity Hearing impairment, X-linked Alport syndrome
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