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
RS780444865 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS780446128 SMPD4 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS780448089 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS780448175 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS780448421 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS780448706 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS780449220 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS780451014 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS780451185 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS780453315 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS780453463 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS780454793 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neuroblastoma
RS780454944 STAT4 Health Risk Conflicting classifications of pathogenicity —
RS780455924 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS780456381 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS780456728 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS780457225 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS780457229 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780457592 DHFR;MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS780458215 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS780458959 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS780460871 WNT1 Health Risk Pathogenic —
RS780461379 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS780462125 UMOD Health Risk Conflicting classifications of pathogenicity Kidney disorder, UMOD-related disorder
RS780462719 KARS1 Health Risk Conflicting classifications of pathogenicity —
RS780464972 KMT2D Health Risk Likely pathogenic KMT2D-related disorder, KMT2D-related disorder
RS780466011 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS78046647 COL11A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, COL11A1-related disorder
RS780466539 ATAD3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Harel-Yoon syndrome
RS780466766 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS780467070 PPCS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780467849 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS780468292 LRTOMT Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63
RS780469370 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS780470124 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS780470185 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS780472451 TBCE Health Risk Pathogenic/Likely pathogenic Encephalopathy, progressive
RS780472557 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS780472683 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS780472818 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS78047425 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS780475279 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780475862 JAG1 Health Risk Pathogenic Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS780475918 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
RS780476417 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, EGFR-related disorder
RS780476959 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS780480297 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS780482118 ADSL Health Risk Pathogenic/Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS780483327 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS780484731 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Kabuki syndrome 2
RS780485157 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS780485203 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS780485635 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS780485650 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS780485844 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS780486131 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS780486838 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS780486915 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS780488548 ERCC4 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome, Xeroderma pigmentosum
RS780488750 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS780489283 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS780489890 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS780489910 COL6A3 Health Risk Conflicting classifications of pathogenicity COL6A3-related disorder, Bethlem myopathy 1A
RS780489988 NARS1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with microcephaly, impaired language
RS780490918 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS780491123 UBR1 Health Risk Pathogenic Johanson-Blizzard syndrome, Johanson-Blizzard syndrome
RS780491808 MESD Health Risk Pathogenic Osteogenesis imperfecta, type 20
RS780492552 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS780492563 COL4A1 Health Risk Likely pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Hemorrhage
RS780492649 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome, Inborn genetic diseases
RS780492669 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS780493577 DCAF17 Health Risk Likely pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS780495201 LIPA Health Risk Pathogenic Wolman disease, Lysosomal acid lipase deficiency
RS780495238 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS780496890 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS780497188 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS780498908 PIGG Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 53
RS780499601 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS780499761 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS780500109 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS780500128 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis
RS780500137 MYL3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy
RS780501659 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS780502064 FANCG Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS780502525 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS780502991 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS780503140 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Inborn genetic diseases
RS780503242 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780504025 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IIIb, Glycogen storage disease type III
RS780504129 XPNPEP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
RS780504243 LIG4 Health Risk Pathogenic —
RS780504551 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS780504624 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS780504632 COL4A4 Health Risk Conflicting classifications of pathogenicity COL4A4-related disorder, Alport syndrome
RS780505425 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS780506142 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS780506505 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS780506840 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS780507196 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS780508146 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
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