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
RS115986826 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Actin accumulation myopathy
RS1159887305 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS115989459 SYNJ1 Health Risk Conflicting classifications of pathogenicity Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS1159903256 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1159906680 EIF2AK4 Health Risk Likely pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1159911756 SHH Health Risk Pathogenic —
RS115991457 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA3-related disorder
RS1159926920 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1159928352 AIP Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1159929268 TWNK Health Risk Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS1159930961 EPHB4 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS1159943880 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS1159943999 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS115994665 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS1159957403 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS1159966472 BEST1 Health Risk Pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS1159969834 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS115997082 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS1159971280 CCNF;TBC1D24 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS1159971759 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1159974816 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy
RS115998465 EPB42 Health Risk Pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS1159989759 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1159989977 TRIM2 Health Risk Likely pathogenic —
RS1159993236 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS116000575 BNC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS116001129 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS116001173 MASP1 Health Risk Conflicting classifications of pathogenicity 3MC syndrome 1, Inborn genetic diseases
RS1160017680 RRAS2 Health Risk Likely pathogenic —
RS1160036887 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS116004018 HPDL Health Risk Likely pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia
RS1160042861 SMAD6 Health Risk Conflicting classifications of pathogenicity Radioulnar synostosis, Aortic valve disease 2
RS116005007 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, Epidermolysis bullosa dystrophica
RS1160050088 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1160054242 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1160062159 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1160066280 GTPBP3 Health Risk Pathogenic —
RS1160070099 IFNGR1 Health Risk Pathogenic Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection
RS1160083526 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1160085107 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1160109522 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1160114136 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1160117945 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger)
RS1160118901 EPB41 Health Risk Likely pathogenic Elliptocytosis 1, Elliptocytosis 1
RS1160126418 ZNF408 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS116012798 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, PNPLA6-related disorder
RS1160146175 F7 Health Risk Pathogenic/Likely pathogenic Factor VII deficiency, Congenital factor VII deficiency
RS1160151083 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, PEX6-related disorder
RS1160165083 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1160169015 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1160174093 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1160186494 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS11601907 KCNQ1 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1
RS116020027 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Autoinflammatory syndrome
RS116020626 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1160208500 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1160209891 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1160246842 IRF2BPL Health Risk Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1160266009 AP1B1 Health Risk Pathogenic Autosomal recessive keratitis-ichthyosis-deafness syndrome, Autosomal recessive keratitis-ichthyosis-deafness syndrome
RS1160275875 SLC6A8 Health Risk Conflicting classifications of pathogenicity Creatine deficiency syndrome 1, Creatine transporter deficiency
RS1160280040 COQ9 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1160287128 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1160288604 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS116030904 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS1160313950 CYP11B2 Health Risk Pathogenic CYP11B2-related disorder, Corticosterone 18-monooxygenase deficiency
RS116032070 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
RS116032324 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS116034780 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS116035280 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1160357920 SACS Health Risk Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1160364840 GOSR2 Health Risk Pathogenic Inborn genetic diseases, Progressive myoclonic epilepsy
RS1160403612 OPHN1 Health Risk Likely pathogenic —
RS1160403859 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1160407003 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1160407199 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS116040763 RIPK1 Health Risk Conflicting classifications of pathogenicity Inborn error of immunity, IL10-related early-onset inflammatory bowel disease
RS116040996 SLC7A14 Health Risk Conflicting classifications of pathogenicity SLC7A14-related disorder, SLC7A14-related disorder
RS116043383 HELLS Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Inborn genetic diseases
RS1160436761 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1160449898 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1160453822 USH2A Health Risk Likely pathogenic —
RS116046810 TWNK Health Risk Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria
RS1160469053 SYNJ1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 53
RS1160480473 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1160501227 CACNA1G Health Risk Likely pathogenic —
RS1160505542 COL18A1 Health Risk Pathogenic —
RS1160507620 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1160509052 ADAMTS17 Health Risk Pathogenic Weill-Marchesani 4 syndrome, recessive
RS1160513370 CYP11B2 Health Risk Pathogenic —
RS1160514064 PRKCSH Health Risk Likely pathogenic —
RS1160525621 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, MELANESIAN BLOND HAIR
RS1160531469 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1160535755 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1160540030 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1160551128 OPA1 Health Risk Conflicting classifications of pathogenicity Optic atrophy with or without deafness, ophthalmoplegia
RS1160551428 RXYLT1 Health Risk Pathogenic —
RS1160553456 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS1160557969 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1160566841 IPO8 Health Risk Pathogenic IPO8-related aortopathy, IPO8-related aortopathy
RS116057045 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer
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