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
RS1296627050 NBEA Health Risk Likely pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS1296629000 CACNA1A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 42
RS1296637776 KIF15 Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS1296650088 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1296652053 CC2D2A Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1296659208 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS1296682446 LTBP2 Health Risk Pathogenic —
RS1296683633 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Cardiovascular phenotype
RS1296705502 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1296715259 STAG3 Health Risk Likely pathogenic —
RS1296722565 LOXHD1 Health Risk Pathogenic —
RS1296728483 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1296731359 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS1296748097 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1296755011 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1296761337 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Congenital Muscular Dystrophy
RS1296767826 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1296782375 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1296797567 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS1296808008 SOX9 Health Risk Pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1296819597 TBCK Health Risk Pathogenic —
RS1296826479 PROM1 Health Risk Likely pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS1296831661 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1296847728 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1296865764 EXOSC3 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS1296877590 B4GALNT1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1296916689 ARG1 Health Risk Conflicting classifications of pathogenicity Arginase deficiency, Inborn genetic diseases
RS1296924903 VPS13A Health Risk Pathogenic —
RS1296926879 TTN Health Risk Conflicting classifications of pathogenicity —
RS1296929975 HYLS1 Health Risk Pathogenic —
RS1296948086 FOXRED1 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS1296971200 FGFR1 Health Risk Conflicting classifications of pathogenicity Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1296989223 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1296992304 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1297011367 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1297022622 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1297025959 ABCA3 Health Risk Likely pathogenic Hereditary pulmonary alveolar proteinosis, Interstitial lung disease due to ABCA3 deficiency
RS1297058561 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1297072049 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15
RS1297077142 C6 Health Risk Pathogenic —
RS1297078466 CYP4F22 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS1297078684 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1297095534 HADHB Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Inborn genetic diseases
RS1297118863 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1297145844 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1297161027 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS1297168513 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS1297169683 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1297171898 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1297176531 MEF2A Health Risk Pathogenic Coronary artery disease, autosomal dominant
RS1297181317 MYBPC3 Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS1297193125 GBA2 Health Risk Pathogenic —
RS1297196554 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1297205425 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1297221126 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS1297225571 GNAO1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1297228624 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1297237099 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, ABCB4-related disorder
RS1297261096 ODAD2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS1297265408 HPS1 Health Risk Pathogenic —
RS1297266241 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS1297277744 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS1297282365 TRMU Health Risk Pathogenic Lung cancer, Lung cancer
RS1297291974 MYH2;MYHAS Health Risk Likely pathogenic Myopathy, Myopathy
RS1297294136 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1297298519 GP9 Health Risk Likely pathogenic Macrothrombocytopenia, Bernard Soulier syndrome
RS1297300713 CEP55 Health Risk Pathogenic/Likely pathogenic Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, CEP55-related disorder
RS1297307718 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic acidemia, Methylmalonic acidemia
RS1297310572 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS1297331528 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1297344700 TOR1A Health Risk Likely pathogenic —
RS1297361897 F8 Health Risk Pathogenic —
RS12973773 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 7, Dilated cardiomyopathy 2A
RS1297383239 POLR2E Health Risk Pathogenic Short stature, Short stature
RS1297385603 SCLT1 Health Risk Likely pathogenic 6 conditions, 6 conditions
RS1297388989 GNAO1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with involuntary movements, GNAO1-related disorder
RS1297408310 DNAH1 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1297410481 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Cone-rod dystrophy 3
RS1297411024 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS1297421890 SCN9A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS1297434866 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Leber congenital amaurosis
RS1297484256 OPHN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1297486092 FRMD7 Health Risk Likely pathogenic Nystagmus 1, congenital
RS1297488496 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1297489863 TRAPPC9 Health Risk Pathogenic/Likely pathogenic —
RS1297494568 HPDL Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1297504532 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1297517393 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS1297536872 FUT8 Health Risk Pathogenic Congenital disorder of glycosylation with defective fucosylation 1, Congenital disorder of glycosylation with defective fucosylation 1
RS1297584118 F8 Health Risk Pathogenic —
RS1297595805 MTOR Health Risk Conflicting classifications of pathogenicity —
RS1297603674 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1297604452 KLF1 Health Risk Pathogenic BLOOD GROUP--LUTHERAN INHIBITOR, BLOOD GROUP--LUTHERAN INHIBITOR
RS1297608441 IFT27 Health Risk Pathogenic —
RS1297610213 LOXHD1 Health Risk Likely pathogenic —
RS1297627471 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS1297634063 SOX11 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Inborn genetic diseases
RS1297645338 MPDZ Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1297648080 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS1297654273 GNPTG Health Risk Pathogenic —
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