SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS781658657 DAO Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, DAO-related disorder
RS781658798 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS781660254 COL4A4 Health Risk Conflicting classifications of pathogenicity Benign familial hematuria, COL4A4-related disorder
RS781660340 FUCA1 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS781660354 PRPH Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS781661338 FAM161A Health Risk Likely pathogenic —
RS781661592 SMAD9 Health Risk Pathogenic/Likely pathogenic Pulmonary hypertension, primary
RS781662866 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS781663444 KCNB1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Developmental and epileptic encephalopathy
RS781663547 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS781663559 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS781665076 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
RS781665189 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS781666793 BCS1L Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome
RS781666816 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS781666830 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS781667158 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS781667314 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS781667543 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS781667754 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS781667761 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS781668118 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS781668793 MSH6 Health Risk Pathogenic Lynch syndrome 5, Lynch syndrome 5
RS781669059 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS781670422 CEP290 Health Risk Likely pathogenic Retinitis pigmentosa, Nephronophthisis
RS781671762 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS781672409 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder
RS781674023 IL1RAPL1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 21
RS781674400 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS781674430 FLNC Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS781676156 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS781676597 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS781677115 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS781677582 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS781677731 CLTC Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS781679424 RXYLT1 Health Risk Pathogenic —
RS781680309 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS781680364 PNPT1 Health Risk Likely pathogenic —
RS781680525 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS781680603 POLH Health Risk Pathogenic —
RS781682472 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS781682527 COL9A2 Health Risk Pathogenic/Likely pathogenic Stickler syndrome, Stickler syndrome
RS781683063 ITGB4 Health Risk Pathogenic —
RS781683198 CAPN1 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS781683199 RTTN Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS781683654 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS781683750 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS781686293 ITK Health Risk Pathogenic Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS781686684 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1-related disorder
RS781687046 SLC30A10 Health Risk Conflicting classifications of pathogenicity Hypermanganesemia with dystonia, polycythemia
RS781687341 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS781687346 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Migraine
RS781687371 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Congenital heart disease
RS781688103 OTOF Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Bilateral sensorineural hearing impairment
RS781688965 ADA2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Deficiency of adenosine deaminase 2
RS781689096 CHRNB1 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS781689191 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS781689303 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis, Mucolipidosis type II
RS781689611 TRIOBP Health Risk Likely pathogenic —
RS781691392 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, PITPNM3-related disorder
RS781691587 ADAMTSL4 Health Risk Pathogenic/Likely pathogenic Ectopia lentis et pupillae, Ectopia lentis 2
RS781693549 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS781693813 SUN5 Health Risk Pathogenic/Likely pathogenic Spermatogenic failure 16, Spermatogenic failure 16
RS781694797 STAMBP Health Risk Conflicting classifications of pathogenicity Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS781695497 CCND2 Health Risk Conflicting classifications of pathogenicity —
RS781696813 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS781697491 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome, Inborn genetic diseases
RS781697514 IDH3B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS781698416 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS781699886 PDE6C Health Risk Pathogenic/Likely pathogenic PDE6C-related disorder, Retinal dystrophy
RS781700589 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS781702398 CWC27 Health Risk Pathogenic Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
RS781703999 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 12, Long QT syndrome
RS781705295 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS781705605 REST Health Risk Conflicting classifications of pathogenicity REST-related disorder, Autosomal dominant nonsyndromic hearing loss 27
RS781705800 KIF11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781705809 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS781705903 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 12
RS781706876 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS781707344 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS781707475 MID1 Health Risk Conflicting classifications of pathogenicity —
RS781710700 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS781710848 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group 7
RS781712271 OLFML2B Health Risk Likely pathogenic —
RS781713344 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, MYO7A-related disorder
RS781713438 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS781714872 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781715616 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS781715787 OSTM1 Health Risk Pathogenic —
RS781716640 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS781717112 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Inborn genetic diseases
RS781718076 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS781720055 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS781720548 RBM12 Health Risk Pathogenic Schizophrenia 19, Schizophrenia 19
RS781721407 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS78172154 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS781721860 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS781722466 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS781723084 TBC1D24 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS781723572 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
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