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
RS764963960 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS764964209 DCX Health Risk Pathogenic —
RS764964224 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS764965013 TNXB Health Risk Conflicting classifications of pathogenicity TNXB-related disorder, Cardiovascular phenotype
RS764965018 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS764965132 DSP Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 8
RS764965243 MYOF Health Risk Conflicting classifications of pathogenicity Angioedema, hereditary
RS764965330 CARS1 Health Risk Pathogenic Microcephaly, developmental delay
RS764965490 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Inborn genetic diseases
RS764966574 DES Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1I, Dilated cardiomyopathy 1I
RS764967942 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS764968413 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS764968620 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS764968635 TUFM Health Risk Conflicting classifications of pathogenicity —
RS764969329 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS764969563 MMACHC Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease
RS764969929 COL9A2 Health Risk Conflicting classifications of pathogenicity —
RS764970185 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Inborn genetic diseases
RS764970503 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS764971229 FANCE Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS764971476 ORC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764971634 PSEN1 Health Risk Conflicting classifications of pathogenicity Acne inversa, familial
RS764971993 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764972504 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS764973712 TAP2 Health Risk Conflicting classifications of pathogenicity MHC class I deficiency, Inborn genetic diseases
RS764974157 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS764974634 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS764976663 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS764976937 FRA10AC1 Health Risk Pathogenic Neurodevelopmental disorder with growth retardation, dysmorphic facies
RS764979540 IFT74 Health Risk Pathogenic —
RS764979889 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS764980259 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS764981110 RAG1 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS764981858 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS764981982 COL4A4 Health Risk Pathogenic/Likely pathogenic COL4A4-related disorder, Autosomal recessive Alport syndrome
RS764982769 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS764983586 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS764984716 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS764985096 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS764985774 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS764987437 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS764988673 CSF1R Health Risk Conflicting classifications of pathogenicity Brain abnormalities, neurodegeneration
RS764989002 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS764990602 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS764991202 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS764992284 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS764992664 NTRK1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis
RS764992732 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS764992858 UQCRC2 Health Risk Likely pathogenic —
RS764992976 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 36, Autosomal dominant nonsyndromic hearing loss 36
RS764993096 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS764993726 KCNE5 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS764993760 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS764993824 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Autosomal dominant nonsyndromic hearing loss 6
RS764994176 ALPL Health Risk Conflicting classifications of pathogenicity Infantile hypophosphatasia, Osteogenesis imperfecta
RS764994644 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764994708 TECTA Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 21, Autosomal recessive nonsyndromic hearing loss 21
RS764994940 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS764995318 ZNF292 Health Risk Likely pathogenic Neurodevelopmental disorder, Intellectual disability
RS764995848 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS764996618 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency
RS764998691 COL11A2 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia
RS764998953 RBBP8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764999720 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, CLN3-related disorder
RS765000723 CELSR3 Health Risk Likely pathogenic See cases, See cases
RS765001215 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS765001553 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS765001640 PI4KB Health Risk Pathogenic Hearing loss, autosomal dominant 87
RS765001696 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS765002341 TRAPPC9 Health Risk Likely pathogenic —
RS765002773 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS765003978 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS765004815 UBN1 Health Risk Likely pathogenic Non-immune hydrops fetalis, Non-immune hydrops fetalis
RS765006379 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS765006452 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS765006624 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 14
RS765007563 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS765008063 LHX4 Health Risk Conflicting classifications of pathogenicity Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome
RS765008315 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS765008436 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, PDE6A-related disorder
RS765010255 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS765011829 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS765011916 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS765012746 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS765012855 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS765013479 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765015650 INPP5K Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS765015874 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS765016970 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS765017975 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS765018527 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS765019023 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS765019090 COL5A2 Health Risk Conflicting classifications of pathogenicity COL5A2-related disorder, Ehlers-Danlos syndrome
RS765019354 PCSK1 Health Risk Pathogenic Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS765020336 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS765020486 COL9A2 Health Risk Conflicting classifications of pathogenicity —
RS765022083 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS765022740 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS765022870 DDX41 Health Risk Conflicting classifications of pathogenicity —
RS765023287 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
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