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
RS143492730 BOLA3 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2
RS143493067 UPB1 Health Risk Pathogenic/Likely pathogenic Deficiency of beta-ureidopropionase, Inborn genetic diseases
RS143493175 OBSL1 Health Risk Conflicting classifications of pathogenicity OBSL1-related disorder, OBSL1-related disorder
RS143494300 CABP4 Health Risk Conflicting classifications of pathogenicity Cone-rod synaptic disorder, congenital nonprogressive
RS143494325 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Holoprosencephaly 7
RS143494598 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 1, Retinitis pigmentosa
RS143495333 ERLIN1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 62
RS143495342 OTOGL Health Risk Conflicting classifications of pathogenicity OTOGL-related disorder, Inborn genetic diseases
RS143495349 NRXN1 Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, Pitt-Hopkins-like syndrome 2
RS143495423 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1434962054 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS143496547 KCNQ5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143497260 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS143499267 NLRP12 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Familial cold autoinflammatory syndrome 2
RS143499301 LRP5 Health Risk Conflicting classifications of pathogenicity LRP5-related disorder, LRP5-related disorder
RS143499441 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS1434994550 AMT Health Risk Conflicting classifications of pathogenicity —
RS143499716 GANAB Health Risk Conflicting classifications of pathogenicity —
RS143501631 CEP104 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 25, Joubert syndrome 25
RS143501870 PSEN2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Alzheimer disease 4
RS1435018884 LSS Health Risk Likely pathogenic Cataract 44, Cataract 44
RS143502251 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS143502728 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS143502850 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS143502927 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1435030978 GPR179 Health Risk Pathogenic Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS1435037360 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS143503790 FOXP1 Health Risk Conflicting classifications of pathogenicity —
RS143503813 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
RS1435045544 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS143505003 GRIA2 Health Risk Likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS143506259 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Inborn genetic diseases
RS143506697 CYP4F22 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS143506858 TRIM8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143507827 CRYGS Health Risk Conflicting classifications of pathogenicity Cataract 20 multiple types, Cataract 20 multiple types
RS143507892 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS143508372 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS143508499 CTCF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143508665 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS1435086834 GUCY2C Health Risk Conflicting classifications of pathogenicity Congenital diarrhea 6, Inborn genetic diseases
RS1435095170 GRIA1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 67
RS143509747 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, Wrinkly skin syndrome
RS143509841 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS1435104438 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS143511166 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS143511261 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS143511306 CAVIN1 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 4, CAVIN1-related disorder
RS143511416 HECW2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, seizures
RS143511494 SQSTM1 Health Risk Pathogenic/Likely pathogenic Paget disease of bone 2, early-onset
RS1435117815 NLRP12 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Familial cold autoinflammatory syndrome 2
RS143512106 KCNH2 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS1435125402 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1435126137 SACS Health Risk Likely pathogenic Hereditary spastic paraplegia, Spastic paraplegia
RS143513000 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, ABCA12-related disorder
RS143513418 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS143513466 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143513621 ODAD2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 23, Primary ciliary dyskinesia
RS143513754 PRKCG Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS143513862 RNLS Health Risk Conflicting classifications of pathogenicity —
RS143515269 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS143515432 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1435155976 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS143515989 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS1435160117 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1435165422 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS143517122 PDX1 Health Risk Conflicting classifications of pathogenicity Pancreatic hypoplasia, Pancreatic hypoplasia
RS1435171602 EIF2B1 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with vanishing white matter 1, Leukoencephalopathy with vanishing white matter 1
RS143517230 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
RS143517321 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1435180142 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS143518519 SCARB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS143520040 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS143520357 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1435203678 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1435204327 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Nanophthalmos 2
RS1435218 LNX1 Health Risk association not found Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
RS143521854 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS143522382 HPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HPS1-related disorder
RS143522428 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS143523271 INSR Health Risk Conflicting classifications of pathogenicity Leprechaunism syndrome, Rabson-Mendenhall syndrome
RS143523371 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS143523403 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS143523460 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS1435239428 TRIO Health Risk Likely pathogenic Microcephaly, Microcephaly
RS1435254326 ATP8A2 Health Risk Likely pathogenic —
RS143525924 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1435262914 PHYH Health Risk Pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS143526711 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, OAT-related disorder
RS1435270860 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1435281238 LIFR Health Risk Pathogenic —
RS143528294 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS143528472 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS1435289617 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS143529486 CC2D1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 3
RS143529809 TCF3 Health Risk Pathogenic —
RS1435305678 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS143530690 ESCO2 Health Risk Conflicting classifications of pathogenicity Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome
RS143531636 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Inborn genetic diseases
RS143531829 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS143532979 NCF4 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
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