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
RS151048983 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, Hypotrichosis 6
RS151048993 RAB27A Health Risk Conflicting classifications of pathogenicity Griscelli syndrome type 2, Inborn genetic diseases
RS151049149 NEK2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS151049890 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Muscular dystrophy
RS151049942 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS151050191 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS151051011 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes syndrome
RS151051045 RBPJ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151051452 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS151052374 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS151052416 TALDO1 Health Risk Pathogenic/Likely pathogenic Deficiency of transaldolase, Deficiency of transaldolase
RS151052547 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS151053440 RFXANK Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, Inborn genetic diseases
RS151053969 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGB4-related disorder
RS151054393 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS151054715 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS151054827 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS151054868 PXDN Health Risk Conflicting classifications of pathogenicity Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS151055240 TERT Health Risk Conflicting classifications of pathogenicity Aplastic anemia, Pulmonary fibrosis and/or bone marrow failure
RS151055286 RINT1 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS151056734 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sponastrime dysplasia
RS151056963 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Ectopia lentis 1
RS151057466 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS151058527 TBX4 Health Risk Conflicting classifications of pathogenicity Coxopodopatellar syndrome, Inborn genetic diseases
RS151058774 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS151061485 EIF2B5 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with vanishing white matter 5, Leukoencephalopathy with vanishing white matter 5
RS151062281 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS151063543 RHO Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 1
RS151064332 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS151069596 KMT2C Health Risk Conflicting classifications of pathogenicity —
RS151070471 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS151071014 TBC1D7 Health Risk Conflicting classifications of pathogenicity —
RS151071546 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS151071780 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS151071820 NPC2 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C2
RS151073129 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Hereditary pancreatitis
RS151074097 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS151074126 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS151074632 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS151076155 TMC8 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to
RS151077423 B4GALNT1 Health Risk Conflicting classifications of pathogenicity —
RS151078160 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS151078515 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Inborn genetic diseases
RS151079411 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS151079505 FRMPD4 Health Risk Conflicting classifications of pathogenicity —
RS151079701 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS151079750 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS151080025 ARHGEF10 Health Risk Conflicting classifications of pathogenicity Autosomal dominant slowed nerve conduction velocity, Autosomal dominant slowed nerve conduction velocity
RS151080414 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS151080730 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS151081036 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS151081625 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases
RS151081792 CHRNA1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS151082401 MTOR Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Inborn genetic diseases
RS151082668 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
RS151083083 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Autosomal recessive congenital ichthyosis 4B
RS151084236 POLR3A Health Risk Conflicting classifications of pathogenicity POLR3A-related disorder, POLR3A-related disorder
RS151086192 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS151086692 GRIA3 Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, History of neurodevelopmental disorder
RS151086737 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS151087446 ASPM Health Risk Conflicting classifications of pathogenicity —
RS151087470 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS151087704 GRXCR2 Health Risk Conflicting classifications of pathogenicity GRXCR2-related disorder, GRXCR2-related disorder
RS151087951 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS151089298 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS151089809 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS151090294 CPAP Health Risk Conflicting classifications of pathogenicity —
RS151090625 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS151090897 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS151093357 ARID1B Health Risk Pathogenic —
RS151093663 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS151094543 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder
RS151095402 UNG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS151095678 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Xeroderma pigmentosum
RS151096932 TLR8 Health Risk Conflicting classifications of pathogenicity —
RS151097629 C7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151098394 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS151100517 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS151100686 LBR Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS151101843 ELP1 Health Risk Pathogenic —
RS151102515 MC4R Health Risk Conflicting classifications of pathogenicity MC4R-related disorder, Early onset severe obesity
RS151102598 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151102991 ZNF423 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 14, Nephronophthisis 14
RS151103559 FBXO7 Health Risk Pathogenic/Likely pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS151103906 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS151104285 CRB1 Health Risk Conflicting classifications of pathogenicity Pigmented paravenous retinochoroidal atrophy, Retinitis pigmentosa
RS151104648 LGI1 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial temporal lobe
RS151104852 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS151105762 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, SLX4-related disorder
RS151107532 RSPH1 Health Risk Pathogenic Primary ciliary dyskinesia 24, Kartagener syndrome
RS151107837 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS151108625 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS151108668 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS151109270 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS151109430 HAL Health Risk Conflicting classifications of pathogenicity Histidinemia, HAL-related disorder
RS151110146 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Spermatogenic failure 50
RS151110889 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 26
RS151112486 SPTB Health Risk Conflicting classifications of pathogenicity —
RS151112655 CSF2RB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151115064 CASQ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
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