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
RS747068091 TTN Health Risk Pathogenic/Likely pathogenic Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1G
RS747068278 TIA1 Health Risk Pathogenic/Likely pathogenic Welander distal myopathy, Welander distal myopathy
RS747068538 CYP2U1;CYP2U1-AS1 Health Risk Likely pathogenic —
RS747068627 MPDZ Health Risk Pathogenic/Likely pathogenic Hydrocephalus, nonsyndromic
RS747069454 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS747070579 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS747072217 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7
RS747072227 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS747072310 EMP2 Health Risk Likely pathogenic Nephrotic syndrome, type 10
RS747072478 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS747073806 NXF5 Health Risk Conflicting classifications of pathogenicity —
RS747073940 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS747074044 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS747076316 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS747076390 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS747076541 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS747077612 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS747077717 FOXP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747078316 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS747079285 DNM1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 31A
RS747079903 CEP250 Health Risk Likely pathogenic —
RS747080824 GARS1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS747081586 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS747081862 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS747082615 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS747082651 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS747083495 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS747083748 HMOX1 Health Risk Pathogenic Heme oxygenase 1 deficiency, Uterine carcinosarcoma
RS747084358 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS747084700 SIX5 Health Risk Conflicting classifications of pathogenicity —
RS747084709 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS747086776 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS747088640 NEUROG3 Health Risk Pathogenic/Likely pathogenic Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4
RS747089219 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747089235 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS747091524 DNAAF19 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 17
RS747091795 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS747091800 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS747092381 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7
RS747093000 GNAS Health Risk Conflicting classifications of pathogenicity GNAS-related disorder, GNAS-related disorder
RS747093389 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS747093432 FYCO1 Health Risk Pathogenic Cataract 18, Cataract 18
RS747093483 SDHC Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS747094191 POC1A Health Risk Pathogenic/Likely pathogenic Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
RS747094879 PABPC1L Health Risk Likely pathogenic Inherited oocyte maturation defect, Inherited oocyte maturation defect
RS747095250 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Autosomal dominant nonsyndromic hearing loss 11
RS747095957 TYR Health Risk Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS747097352 NEU1 Health Risk Pathogenic/Likely pathogenic —
RS747097789 GJA3 Health Risk Conflicting classifications of pathogenicity Cataract 14 multiple types, Inborn genetic diseases
RS747097960 PKLR Health Risk Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS747099919 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS747100254 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS747100389 RAD9B Health Risk Likely pathogenic Neural tube defect, Neural tube defect
RS747101350 NDUFA12 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 23
RS747101853 BPTF Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Inborn genetic diseases
RS747103340 CUL7 Health Risk Pathogenic —
RS747103920 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS747104789 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS747104864 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS747104878 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS747105829 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases
RS747106242 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS747107966 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Autoinflammatory syndrome
RS747108004 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747108035 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS747108452 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS747108471 FOXP1 Health Risk Conflicting classifications of pathogenicity —
RS747108670 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS747108820 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS747108904 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS747109352 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS747109385 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS747109506 WDR73 Health Risk Conflicting classifications of pathogenicity Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS747109742 MOGS Health Risk Likely pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS747110409 NBAS Health Risk Pathogenic —
RS747111841 HTT Health Risk Likely pathogenic —
RS747111881 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS747113644 FANCE Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS747113965 NFKB2 Health Risk Likely pathogenic NFKB2-related disorder, NFKB2-related disorder
RS747114420 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS747114776 CACNA1H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hyperaldosteronism
RS747115338 SEMA6B Health Risk Pathogenic See cases, See cases
RS747116196 SCNN1B Health Risk Pathogenic/Likely pathogenic Bronchiectasis with or without elevated sweat chloride 1, Pseudohypoaldosteronism
RS747116308 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS747116356 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS747117082 NHLRC2 Health Risk Likely pathogenic See cases, See cases
RS747118105 CLCN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747118425 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS747119727 PI4KA Health Risk Likely pathogenic Polymicrogyria, perisylvian
RS747119819 VPS35L Health Risk Pathogenic Ritscher-Schinzel syndrome 3, Ritscher-Schinzel syndrome 3
RS747121305 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, DNAI1-related disorder
RS747122485 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS747122599 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747122703 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS747122876 RPE65 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 2, Retinitis pigmentosa
RS747123680 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS747125633 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS747126561 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 1, Adams-Oliver syndrome 1
RS747127624 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS747129906 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
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