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
RS373211059 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related disorder
RS373211062 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS373211307 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS373212534 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS373212940 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Juvenile myelomonocytic leukemia
RS373213201 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS373213507 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS373213982 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS373214954 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373215445 DOCK6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373216375 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS373218165 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS373219694 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS373221034 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Myelodysplastic syndrome
RS373222937 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS373223049 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373223582 ABCC6 Health Risk Conflicting classifications of pathogenicity ABCC6-related disorder, ABCC6-related disorder
RS373223627 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS373224251 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS373224610 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS373226323 CDCA7 Health Risk Conflicting classifications of pathogenicity —
RS373226409 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS373226693 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS373226793 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS373226992 HCFC1 Health Risk Conflicting classifications of pathogenicity HCFC1-related disorder, Methylmalonic acidemia with homocystinuria
RS373227180 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS373227647 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, 7 conditions
RS373227792 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS373228579 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS373228895 KLB Health Risk Conflicting classifications of pathogenicity —
RS373229577 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS373229634 DNAJB2 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS373229638 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS373230021 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS373230569 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS373231077 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS373231267 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS373232101 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS373232503 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS373232880 CASP8 Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS373232961 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS373233257 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS373233313 RFXAP Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS373233749 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS373234419 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS373234665 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS373234696 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS373235127 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373235823 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS373236287 TRPM5 Health Risk Conflicting classifications of pathogenicity —
RS373236811 ENTPD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Familial cancer of breast
RS373238616 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS373240849 KY Health Risk Pathogenic Myofibrillar myopathy 7, Myofibrillar myopathy 7
RS373240866 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS373241103 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHD7-related disorder
RS373241264 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS373241537 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS373242362 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS373242750 CHM Health Risk Conflicting classifications of pathogenicity Choroideremia, Choroideremia
RS373242881 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, PEX5-related disorder
RS373244328 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS373244595 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS373246130 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS373246540 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases
RS373248127 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS373248358 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373249008 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS373249212 BTD Health Risk Pathogenic Biotinidase deficiency, Inborn genetic diseases
RS373250430 CNTNAP1 Health Risk Conflicting classifications of pathogenicity CNTNAP1-related disorder, Neuropathy
RS373251065 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS373251374 APOB Health Risk Likely pathogenic Hypercholesterolemia, autosomal dominant
RS373251784 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS373252814 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder
RS373253569 DLL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373253770 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS373254538 MASP1 Health Risk Likely pathogenic 3MC syndrome 1, 3MC syndrome 1
RS373255125 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS373256281 ERBIN Health Risk Conflicting classifications of pathogenicity —
RS373256669 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS373257776 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS373258036 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS373258662 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS373260040 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease
RS373260156 MAGT1 Health Risk Pathogenic Congenital disorder of glycosylation, type ICC
RS373260991 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMB2-related infantile-onset nephrotic syndrome
RS373261115 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy
RS373261147 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS373261521 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS373261910 SIK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS373262690 DNAH9 Health Risk Conflicting classifications of pathogenicity DNAH9-related disorder, DNAH9-related disorder
RS373262743 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS373263202 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS373264085 SETBP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 29
RS373264146 NPHS1 Health Risk Conflicting classifications of pathogenicity Microscopic hematuria, Finnish congenital nephrotic syndrome
RS373264436 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS373267047 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Inborn genetic diseases
RS373268234 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373268816 SAG Health Risk Likely pathogenic —
RS373269394 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS373269573 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
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