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
RS200658102 PTPN23 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, PTPN23-related disorder
RS200658439 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS200658795 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS200658991 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS200659479 UNC80 Health Risk Pathogenic/Likely pathogenic Encephalopathy, Hypotonia
RS200659780 PCDH15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200660016 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS200660051 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS200660071 APC2 Health Risk Likely pathogenic Cortical dysplasia, complex
RS200660283 MAFB Health Risk Conflicting classifications of pathogenicity Multicentric carpo-tarsal osteolysis with or without nephropathy, Duane retraction syndrome 3 with or without deafness
RS200660332 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS200660337 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS200660642 FLNA Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Melnick-Needles syndrome
RS200660997 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200661044 MTRR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE
RS200661329 PIGQ Health Risk Pathogenic Epilepsy, PIGQ-related disorder
RS200662005 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS200662010 CACNB4 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 5, Idiopathic generalized epilepsy
RS200662267 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS200662317 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS200662687 FAT1 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, Familial pancreatic carcinoma
RS200662943 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS200662973 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS200663004 TBXAS1 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia, Abnormal bleeding
RS200663056 ELN Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 1
RS200663253 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS200663337 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS200663477 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, PEX1-related disorder
RS200663524 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS200663602 TSEN2 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS200664061 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Hearing impairment
RS200664140 PDZD7 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive 57
RS200664169 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200664784 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS200665026 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS200665269 FIGLA Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 6, Inborn genetic diseases
RS200665694 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS200665892 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS200666300 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Inherited Immunodeficiency Diseases, Schimke immuno-osseous dysplasia
RS200666378 THPO Health Risk Conflicting classifications of pathogenicity Thrombocythemia 1, Thrombocythemia 1
RS200666822 MTSS2 Health Risk Conflicting classifications of pathogenicity —
RS200666995 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Senior-Loken syndrome 6
RS200667230 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS200667255 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS200667343 TUSC3 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 7
RS200667384 DCAF12L2 Health Risk Conflicting classifications of pathogenicity —
RS200667470 PTH1R Health Risk Conflicting classifications of pathogenicity Primary failure of tooth eruption, Chondrodysplasia Blomstrand type
RS200667912 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS200668425 SRRM2 Health Risk Likely pathogenic —
RS200668471 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Dilated cardiomyopathy 1S
RS200668806 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS200668867 DAAM2 Health Risk Pathogenic Nephrotic syndrome, type 24
RS200669099 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS200669208 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS200670002 IQSEC3 Health Risk Conflicting classifications of pathogenicity IQSEC3-related disorder, IQSEC3-related disorder
RS200670377 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS200670445 OTOF Health Risk Conflicting classifications of pathogenicity —
RS200670692 ABCC8 Health Risk Pathogenic/Likely pathogenic Familial hyperinsulinism, Hyperinsulinemic hypoglycemia
RS200670993 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Qualitative or quantitative defects of delta-sarcoglycan
RS200671094 BMP4 Health Risk Conflicting classifications of pathogenicity Microphthalmia with brain and digit anomalies, Orofacial cleft 11
RS2006715 ACO2 Health Risk Conflicting classifications of pathogenicity Optic atrophy 9, Infantile cerebellar-retinal degeneration
RS200672080 NRXN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pitt-Hopkins-like syndrome 2
RS200672270 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Connective tissue disorder
RS200672589 CDT1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4
RS200672668 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Microscopic hematuria
RS200672738 CD40LG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1, Inborn genetic diseases
RS200672750 LAMB3 Health Risk Pathogenic —
RS200672755 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Diabetes mellitus
RS200672818 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200673016 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS200673062 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS200673172 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS200673226 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 2
RS200673370 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS200673670 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS200673681 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS200673705 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS200673902 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS200674097 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS200674564 USP53 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200675113 SMARCB1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 15
RS200675195 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200675356 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS200675569 HMGCS2 Health Risk Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS200676060 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS200676307 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS200676378 CEP135 Health Risk Pathogenic/Likely pathogenic Microcephaly 8, primary
RS200676634 HOXA13 Health Risk Conflicting classifications of pathogenicity Guttmacher syndrome, Hand-foot-genital syndrome
RS200676700 NCKAP5 Health Risk Conflicting classifications of pathogenicity —
RS200676815 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS200677445 CTCF Health Risk Pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS200678102 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS200678111 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, CTRC-related disorder
RS200678214 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200678379 ROBO3 Health Risk Conflicting classifications of pathogenicity Gaze palsy, familial horizontal
RS200678412 MME Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS200678745 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS200679026 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, FBP1-related disorder
RS200679164 PAX3 Health Risk Conflicting classifications of pathogenicity Craniofacial-deafness-hand syndrome, Waardenburg syndrome type 3
RS200679354 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
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