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
RS186494101 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS186495252 PSEN1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1U, Alzheimer disease 3
RS1864965277 CDH23 Health Risk Pathogenic —
RS1864965345 CDH23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS186497293 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS186499459 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, EYS-related disorder
RS186504463 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS1865048329 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS186505065 CIT Health Risk Conflicting classifications of pathogenicity CIT-related disorder, CIT-related disorder
RS186506382 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS186509771 VANGL1 Health Risk Conflicting classifications of pathogenicity Sacral defect with anterior meningocele, Neural tube defect
RS186510389 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS186512876 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1865145294 CDH23 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1865149889 CDH23 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS186517232 QRICH2 Health Risk Conflicting classifications of pathogenicity —
RS186519521 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS186526524 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS186528086 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, ATL1-related disorder
RS1865287034 CDH23 Health Risk Pathogenic —
RS186530498 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS186530606 CEP135 Health Risk Pathogenic Microcephaly 8, primary
RS186533442 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS186535459 NEXMIF Health Risk Conflicting classifications of pathogenicity NEXMIF-related disorder, NEXMIF-related disorder
RS186535521 PGAP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS186535951 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS186538122 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS186538779 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS186544610 BEST1 Health Risk Pathogenic/Likely pathogenic Vitelliform macular dystrophy 2, Autosomal recessive bestrophinopathy
RS186544754 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS186547381 FUS Health Risk Conflicting classifications of pathogenicity Tremor, hereditary essential
RS186548567 LAMB1 Health Risk Conflicting classifications of pathogenicity —
RS186548927 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS186558364 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS186559420 MYSM1 Health Risk Conflicting classifications of pathogenicity MYSM1-related disorder, Inborn genetic diseases
RS1865609793 CDH23 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1D, Pituitary adenoma 5
RS1865621296 SDHD Health Risk Likely pathogenic Carney-Stratakis syndrome, Pheochromocytoma
RS1865634253 CDH23 Health Risk Pathogenic —
RS186563991 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS1865650219 SDHD Health Risk Conflicting classifications of pathogenicity Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss
RS1865653068 SDHD Health Risk Conflicting classifications of pathogenicity Carney-Stratakis syndrome, Cowden syndrome 3
RS1865654197 SDHD Health Risk Pathogenic/Likely pathogenic Paragangliomas with sensorineural hearing loss, Pheochromocytoma
RS1865655347 SDHD Health Risk Pathogenic Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss
RS1865655722 SDHD Health Risk Pathogenic Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss
RS1865657237 SDHD Health Risk Conflicting classifications of pathogenicity Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss
RS1865684964 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Carney-Stratakis syndrome
RS1865686266 SDHD Health Risk Pathogenic Carney-Stratakis syndrome, Pheochromocytoma
RS1865690107 SDHD Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1865721642 CDH23 Health Risk Pathogenic —
RS1865725846 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1865727404 CDH23 Health Risk Pathogenic —
RS1865731567 CDH23 Health Risk Pathogenic —
RS186577215 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS186577948 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS1865794708 BTG4 Health Risk Pathogenic Oocyte maturation defect 8, Oocyte maturation defect 8
RS1865805899 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Somatotroph adenoma
RS1865810132 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS1865817808 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS1865820132 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS1865848848 AIP Health Risk Likely pathogenic —
RS1865853604 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1865878972 AIP Health Risk Pathogenic —
RS1865879702 BTG4 Health Risk Likely pathogenic Oocyte maturation defect 8, Oocyte maturation defect 8
RS1865886567 BTG4 Health Risk Likely pathogenic Oocyte maturation defect 8, Oocyte maturation defect 8
RS1865887896 CDH23 Health Risk Likely pathogenic Childhood onset hearing loss, Childhood onset hearing loss
RS186589083 CHRNG Health Risk Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS186594769 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS186595127 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS186595817 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS186600513 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1866056028 ETV6 Health Risk Likely pathogenic —
RS1866073268 MICU1 Health Risk Likely pathogenic —
RS1866078752 CCDC82 Health Risk Pathogenic —
RS1866090527 CCDC82 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1866200282 RELT Health Risk Pathogenic Amelogenesis imperfecta, type 3C
RS186620158 TRIOBP Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS1866204293 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS186620709 TPO Health Risk Pathogenic/Likely pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS186624523 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS186631992 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS186634083 LAMC3 Health Risk Conflicting classifications of pathogenicity Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS186634115 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Maturity-onset diabetes of the young
RS186641344 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Ovarian cancer
RS186641437 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hepatocellular carcinoma
RS186643840 MAK Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 62
RS186644871 MYO7A Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 11, MYO7A-related disorder
RS186649954 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS186652746 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1866558759 CBLIF Health Risk Pathogenic Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
RS186663314 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, MECP2-related disorder
RS186663906 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS1866696179 CDH23 Health Risk Pathogenic —
RS1866696630 CDH23 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS186669805 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS186670730 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS186672543 ILDR1 Health Risk Conflicting classifications of pathogenicity ILDR1-related disorder, ILDR1-related disorder
RS186681106 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS186684627 IFITM5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS186685101 CEP41 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 15, Joubert syndrome 15
RS186686151 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
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