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
RS138171489 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS1381717741 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS138171940 ADCY10 Health Risk Conflicting classifications of pathogenicity —
RS138172035 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS138172448 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1381728472 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5
RS138173087 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS138173172 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome
RS138173310 GLRA1 Health Risk Conflicting classifications of pathogenicity Hereditary hyperekplexia, GLRA1-related disorder
RS138173652 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS138173790 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, RAI1-related disorder
RS138173863 ERCC8 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 1, Cockayne syndrome type 1
RS1381740657 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS138175552 NGF Health Risk Conflicting classifications of pathogenicity Congenital sensory neuropathy with selective loss of small myelinated fibers, Inborn genetic diseases
RS138176093 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS138176387 KPNA7 Health Risk Conflicting classifications of pathogenicity —
RS138177167 CYP11A1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS138177358 CARD8 Health Risk Conflicting classifications of pathogenicity CARD8-related disorder, CARD8-related disorder
RS1381777610 GHRHR Health Risk Pathogenic —
RS138177808 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS1381778697 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1381780038 LARGE1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS138178120 AGER Health Risk Conflicting classifications of pathogenicity —
RS1381781375 ITPA Health Risk Pathogenic Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
RS138178437 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS138178673 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS138178848 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1381800210 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8B
RS1381802174 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS138181528 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS138182270 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, CDHR1-related disorder
RS138182276 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS138182352 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, FANCE-related disorder
RS138183896 UGT1A1 Health Risk Conflicting classifications of pathogenicity Lucey-Driscoll syndrome, Gilbert syndrome
RS138184115 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS138184483 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, SMARCB1-related disorder
RS138184493 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS138185030 NDUFS2 Health Risk Conflicting classifications of pathogenicity —
RS138185038 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS1381855537 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1381855818 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS138185589 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS1381856337 CLN6 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS138186428 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS138187021 GNB4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases
RS138187022 EHHADH Health Risk Conflicting classifications of pathogenicity EHHADH-related disorder, EHHADH-related disorder
RS138187791 EXT2 Health Risk Conflicting classifications of pathogenicity Seizures-scoliosis-macrocephaly syndrome, Exostoses
RS138189144 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCD2-related disorder
RS1381894692 KAT6B Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS138189536 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS138189639 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS138190335 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, CDH3-related disorder
RS138190453 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Leber congenital amaurosis 3
RS138190838 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS138191075 GLI2 Health Risk Conflicting classifications of pathogenicity Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS1381910966 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS138192474 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1381927942 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS138192941 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS138193236 FLNC Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS138193383 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138193444 SERPINH1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 10, Osteogenesis imperfecta
RS138193709 CHRM2 Health Risk Conflicting classifications of pathogenicity —
RS138193963 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS138194008 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS1381940328 CEP290 Health Risk Likely pathogenic Leber congenital amaurosis 10, Leber congenital amaurosis 10
RS138194436 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS138195434 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS138195505 C2 Health Risk Conflicting classifications of pathogenicity —
RS138195744 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases
RS1381957912 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS138195998 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS138196132 KIF7 Health Risk Pathogenic Acrocallosal syndrome, KIF7-related disorder
RS138196409 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1381975764 COL7A1 Health Risk Pathogenic —
RS138197888 TRPM5 Health Risk Conflicting classifications of pathogenicity —
RS138198591 PUS1 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS138198839 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS138199394 MPV17 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, axonal
RS1381998109 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS138200155 CADM3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138200248 PALB2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group N, Familial cancer of breast
RS138201425 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1382025345 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1382026467 LTBP4 Health Risk Pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS138203195 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS1382032181 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1382039751 PPM1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138204612 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS138204772 TNFRSF11A Health Risk Conflicting classifications of pathogenicity Paget disease of bone 2, early-onset
RS138205085 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS138205421 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS138205941 PDHX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138206466 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1382069196 RMND1 Health Risk Conflicting classifications of pathogenicity —
RS138207257 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1382076574 FLNA Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, Heterotopia
RS1382083552 DEGS1 Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS1382090523 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS138209330 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
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