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
RS752608224 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS752608779 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Deafness
RS752608972 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS752609119 INVS Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis
RS752609517 COL4A5 Health Risk Likely pathogenic —
RS752610166 CFH Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Factor H deficiency
RS752610846 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS752611073 COG5 Health Risk Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS752611378 KDSR Health Risk Likely pathogenic Erythrokeratodermia variabilis et progressiva 4, Acute myeloid leukemia
RS752611698 TMEM67 Health Risk Pathogenic Joubert syndrome 6, Joubert syndrome 6
RS752611838 SCN4A Health Risk Pathogenic —
RS752612332 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
RS752614339 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS752615209 NOD2 Health Risk Pathogenic Behcet disease, Behcet disease
RS752615788 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS752616130 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS752616462 MAPKBP1 Health Risk Pathogenic Nephronophthisis 20, Nephronophthisis 20
RS752618401 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS752618658 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS752618765 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS752619497 PROM1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Cone-rod dystrophy 12
RS752619582 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS752619610 MRPS7 Health Risk Conflicting classifications of pathogenicity Premature ovarian insufficiency, Sensorineural hearing loss disorder
RS752619850 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS752620199 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS752620318 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS752620765 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS752620885 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS752621588 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS752621657 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS752621741 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS752621886 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS75262191 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Inborn genetic diseases
RS752622244 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS752622447 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS752622525 CRPPA Health Risk Conflicting classifications of pathogenicity —
RS752622662 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS752623413 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Spastic ataxia
RS752623874 AQP2 Health Risk Pathogenic/Likely pathogenic Diabetes insipidus, nephrogenic
RS752624544 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS752625236 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic
RS752625731 TMPRSS15 Health Risk Pathogenic —
RS752626142 D2HGDH Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS752626288 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS752627126 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS752627281 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS752627315 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS752628149 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS752629356 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS752629436 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Thrombocytopenia 2
RS752629624 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS752630858 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS752633548 PDX1 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS752633620 SKIC3 Health Risk Likely pathogenic —
RS752633980 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS752634617 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS752635135 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS752635785 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752636698 EIF2B3 Health Risk Pathogenic/Likely pathogenic Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 1
RS752637604 HEPACAM Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting
RS752638694 C2CD3 Health Risk Pathogenic —
RS752640127 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS752641050 ALPL Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Hypophosphatasia
RS752641437 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS752642190 ARID1B Health Risk Conflicting classifications of pathogenicity ARID1B-related disorder, Coffin-Siris syndrome 1
RS752642837 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS752642842 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS752645827 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS752646435 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS752646714 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS752646721 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS752647137 DNAH9 Health Risk Pathogenic/Likely pathogenic Ciliary dyskinesia, primary
RS752647511 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3
RS752648041 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS752648225 LARP7 Health Risk Pathogenic/Likely pathogenic Microcephalic primordial dwarfism, Alazami type
RS752648536 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS752649372 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS752649606 ESPN Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36
RS752649731 TNFRSF9 Health Risk Pathogenic —
RS752650571 SHH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Solitary median maxillary central incisor syndrome
RS752651197 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS752653043 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS752653792 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS752653908 LMBR1 Health Risk Pathogenic —
RS752654519 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS752654793 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS752655063 SLC45A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SLC45A2-related disorder
RS752655158 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS752656397 CANT1 Health Risk Pathogenic/Likely pathogenic Desbuquois dysplasia 1, Epiphyseal dysplasia
RS752656493 IARS1 Health Risk Conflicting classifications of pathogenicity —
RS752656697 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Legius syndrome
RS752657203 ITGB4 Health Risk Pathogenic Epidermolysis bullosa, junctional 5A
RS752657453 PGM3 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 23, Immunodeficiency 23
RS752657971 FBLN5 Health Risk Conflicting classifications of pathogenicity —
RS752658223 COL5A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Ehlers-Danlos syndrome
RS752658811 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS752659088 KIAA0753 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Jeune thoracic dystrophy
RS752659125 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS752659495 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752659701 RAI1 Health Risk Conflicting classifications of pathogenicity —
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