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
RS201162968 SEC16A Health Risk Conflicting classifications of pathogenicity —
RS201162989 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS201163149 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS201163739 NOTCH1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Adams-Oliver syndrome 5
RS201163858 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS201164454 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Inborn genetic diseases
RS201164931 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2011649912 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS201165084 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS201165149 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS201165309 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS201165355 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS201165591 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS201165648 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Congenital hypothyroidism
RS201165741 NPAT Health Risk Conflicting classifications of pathogenicity —
RS201165929 MATR3 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 21, MATR3-related disorder
RS201165989 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS201166295 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS201167060 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS201167069 PDZD2 Health Risk Conflicting classifications of pathogenicity —
RS201167101 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS201167216 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201167814 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS201167928 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201168011 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS201168119 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrullinemia
RS201168471 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS201168715 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS201168906 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS201168980 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS201169030 TNC Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 56, Autosomal dominant nonsyndromic hearing loss 56
RS201169452 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201170241 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS201170656 KRAS Health Risk Conflicting classifications of pathogenicity KRAS-related disorder, KRAS-related disorder
RS201170664 DSPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201171003 CCT5 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy with spastic paraplegia, Hereditary sensory and autonomic neuropathy with spastic paraplegia
RS201171064 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS201171374 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS201171459 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS201171524 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS201172088 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS201172277 TMPRSS3 Health Risk Conflicting classifications of pathogenicity —
RS201172503 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS201173264 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Inborn genetic diseases
RS201173415 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS201173498 DNAAF4 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 25
RS201174170 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal renal tubular acidosis, ATP6V0A4-related disorder
RS201174268 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital myopathy with fiber type disproportion
RS201174299 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS201174456 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
RS201174513 TBC1D24 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS201174718 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS201174821 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS201175104 PPP1R12A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201175279 DIP2A Health Risk Conflicting classifications of pathogenicity —
RS201175472 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS201175678 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases
RS201175768 SLC1A4 Health Risk Conflicting classifications of pathogenicity SLC1A4-related disorder, SLC1A4-related disorder
RS201175819 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS201175894 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS201176149 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS201176284 OSTM1 Health Risk Conflicting classifications of pathogenicity —
RS201176444 LIG4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201176993 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201177026 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS201177082 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Inborn genetic diseases
RS201177183 CC2D1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 3
RS201177560 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS201177696 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS201177806 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS201178011 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS201178351 WWOX Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS201179101 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS201179294 PEX3 Health Risk Pathogenic Peroxisome biogenesis disorder 10B, Peroxisome biogenesis disorder 10B
RS201179527 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, AP3B1-related disorder
RS201179667 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, Gray platelet syndrome
RS201179693 ERCC4 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome, Xeroderma pigmentosum
RS201180147 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201180236 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS201180239 DDX11 Health Risk Pathogenic/Likely pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS201180477 AICDA Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS201180565 ZNF335 Health Risk Conflicting classifications of pathogenicity —
RS201180707 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, NRXN1-related disorder
RS201180712 SLC17A8 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 25, Inborn genetic diseases
RS201180985 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201181085 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS201181440 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Epiphyseal dysplasia
RS201181493 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS201181517 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS201181735 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS201181950 TMEM231 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 11
RS201182814 MOCS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS2011830516 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201183167 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases
RS201183360 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Cobalamin C disease
RS201183533 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Seizures
RS201183584 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS201183725 OTOG Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 18B, OTOG-related disorder
RS201184042 BGN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201184093 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Paroxysmal extreme pain disorder
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