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
RS748917147 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, 11 conditions
RS748917509 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS748919077 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS748919606 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, Inborn genetic diseases
RS748919727 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS748919988 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS748920885 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS748922513 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Inborn genetic diseases
RS748922639 CDC14A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748922857 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS748922882 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS748924063 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS748924248 TAT Health Risk Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS748924643 COQ4 Health Risk Pathogenic/Likely pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, COQ4-related disorder
RS748925635 ALDH18A1 Health Risk Pathogenic/Likely pathogenic ALDH18A1-related de Barsy syndrome, de Barsy syndrome
RS748926071 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748926167 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS748926400 TYRP1 Health Risk Likely pathogenic —
RS748926444 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748926718 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS748926816 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS748926976 UBE4A Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
RS748927280 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS748927298 ORC6 Health Risk Likely pathogenic —
RS748927848 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS748928044 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS748928605 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS748928863 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Inborn genetic diseases
RS748929117 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS748930248 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS748930384 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group P
RS748930609 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS748930854 SKIC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748931188 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS748933560 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS748933873 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS748934203 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS748935500 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS748935741 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS748936007 CREBBP Health Risk Conflicting classifications of pathogenicity CREBBP-related disorder, CREBBP-related disorder
RS748936034 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy
RS748936457 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Colon adenocarcinoma
RS748936673 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS748936767 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS748937055 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS748937483 TMEM67 Health Risk Pathogenic Meckel syndrome, type 3
RS748937501 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS748937918 EIF2B3 Health Risk Likely pathogenic —
RS748938385 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS748939090 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS748940147 COL7A1 Health Risk Pathogenic COL7A1-related disorder, Recessive dystrophic epidermolysis bullosa
RS748940418 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS748941040 YARS2 Health Risk Pathogenic/Likely pathogenic Myopathy, lactic acidosis
RS748941459 VPS13A Health Risk Pathogenic —
RS748942718 PRLR Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS748943724 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS748944452 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS748944640 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS748946310 ASXL1 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS748946433 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS748946434 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MYH9-related disorder
RS748946491 PDE6A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 43
RS748947620 MVK Health Risk Conflicting classifications of pathogenicity Porokeratosis 3, disseminated superficial actinic type
RS748947682 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS748947919 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS748949261 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS748949478 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS748949603 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS748949915 BICRA Health Risk Conflicting classifications of pathogenicity —
RS748950533 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS748950751 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS748950922 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS748950933 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS748951253 TCTN2 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS748951603 KIZ Health Risk Likely pathogenic Papillary renal cell carcinoma type 1, Papillary renal cell carcinoma type 1
RS748951777 SPTBN1 Health Risk Likely pathogenic Developmental delay, impaired speech
RS748952554 PTPN11 Health Risk Likely pathogenic RASopathy, RASopathy
RS748952768 LIFR Health Risk Conflicting classifications of pathogenicity Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS748953233 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS748954661 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS748955039 SUZ12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748956593 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS748956654 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS748958265 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS748959693 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS748961218 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS748961276 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS748961800 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS748962730 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS748962880 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8-related disorder
RS748963082 KIF21A Health Risk Conflicting classifications of pathogenicity Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases
RS748964205 GCK Health Risk Likely pathogenic —
RS748964279 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS748964975 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, LARGE1-related disorder
RS748965227 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS748965398 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS748965468 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, DEPDC5-related disorder
RS748966916 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS748967139 CLCN4 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS748967395 CYP11B2 Health Risk Pathogenic CYP11B2-related disorder, CYP11B2-related disorder
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