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
RS1419691572 GTPBP3 Health Risk Pathogenic Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
RS141969535 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS141969705 HERC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141969815 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS141969887 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS141970072 MTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases
RS141970313 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS141970893 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS141970956 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGB4-related disorder
RS141971313 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1419720341 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS141972252 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS141972334 VPS13D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1419725521 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS141972928 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1419730289 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS141973081 SPTB Health Risk Conflicting classifications of pathogenicity —
RS141973124 ANLN Health Risk Conflicting classifications of pathogenicity ANLN-related disorder, ANLN-related disorder
RS141973397 NEK8 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2
RS141973925 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS141974160 MFN2 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2
RS141974473 PKD1L1 Health Risk Pathogenic PKD1L1-related disorder, Heterotaxy
RS1419749403 LOXHD1 Health Risk Pathogenic —
RS141975335 ADAM8 Health Risk Conflicting classifications of pathogenicity —
RS141975755 SLC25A22 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1419763553 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS141976385 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS141976414 EIF3F Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder, autosomal recessive 67
RS141976852 REEP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 31, Hereditary spastic paraplegia
RS141977229 F5 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome
RS141977752 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1419777882 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS141978088 TEX15 Health Risk Pathogenic/Likely pathogenic Spermatogenic failure 25, Spermatogenic failure 25
RS141978327 RAB7A Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2B, Inborn genetic diseases
RS141978499 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, COL11A1-related disorder
RS141979202 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 5
RS141979671 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS141980901 TULP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 15
RS141981161 DTNA Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 1, DTNA-related disorder
RS1419816068 PI4KA Health Risk Pathogenic Polymicrogyria, perisylvian
RS141982176 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1419827895 ILDR1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42
RS141982796 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS141982812 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder
RS1419830872 B3GAT3 Health Risk Pathogenic —
RS141983653 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS141983717 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, See cases
RS1419840309 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS141985098 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS141985299 MASP1 Health Risk Conflicting classifications of pathogenicity 3MC syndrome 1, 3MC syndrome 1
RS141986611 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS141987389 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1419875412 NPHP4 Health Risk Pathogenic Nephronophthisis 4, Melanoma
RS1419879344 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS141988240 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS1419882645 BRCA2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS141988342 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS141988626 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, ALDOB-related disorder
RS141988913 EIF2B3 Health Risk Likely pathogenic Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 3
RS141989309 RHOBTB2 Health Risk Conflicting classifications of pathogenicity —
RS141989486 LAMA5 Health Risk Conflicting classifications of pathogenicity Severe hydrocephalus, Holoprosencephaly sequence
RS141989813 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS1419898630 CD46 Health Risk Pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1419902437 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS141990258 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1419913594 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Monogenic hearing loss
RS1419917079 KDM6B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS141992173 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA3-related disorder
RS141992236 SLC46A1 Health Risk Conflicting classifications of pathogenicity —
RS141992300 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS141992367 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141992399 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Familial pancreatic carcinoma
RS1419924139 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS1419925001 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS141992569 PRKCD Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS141993139 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS141993560 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141993646 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS1419938249 RYR1 Health Risk Pathogenic/Likely pathogenic Congenital multicore myopathy with external ophthalmoplegia, King Denborough syndrome
RS141995194 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1419959359 SETD1B Health Risk Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS141997826 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS141999048 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS1419998623 SCN5A Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1E, Long QT syndrome 3
RS142000963 LMNA Health Risk Conflicting classifications of pathogenicity Variant of unknown significance, Primary dilated cardiomyopathy
RS142001296 ENPP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ENPP1-related disorder
RS142001477 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS142001971 DLD Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Pyruvate dehydrogenase complex deficiency
RS142002241 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Limb-girdle muscular dystrophy
RS142002294 SEC24D Health Risk Pathogenic —
RS142002449 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS1420027196 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS142002945 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS1420038281 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS142004418 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder
RS142004524 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, GLDC-related disorder
RS142004835 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1420063863 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS142006710 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142007193 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
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