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
RS769706055 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS769706074 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS769706539 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS769707492 C1R Health Risk Pathogenic Ehlers-Danlos syndrome, periodontal type 1
RS769708176 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS769708437 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS769708956 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS769710212 SCN3A Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS769711425 ABCA4 Health Risk Pathogenic —
RS769711983 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS769712061 SLC3A1 Health Risk Pathogenic Cystine urolithiasis, Cystine urolithiasis
RS769712128 MYH2 Health Risk Pathogenic Myopathy, proximal
RS769712441 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS769713780 RARS1 Health Risk Pathogenic Hypomyelinating leukodystrophy 9, Inborn genetic diseases
RS769716748 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS769717341 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis
RS769717588 FBN1 Health Risk Likely pathogenic Isolated thoracic aortic aneurysm, Isolated thoracic aortic aneurysm
RS769718381 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS769719514 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769719835 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS769720139 UGT1A1 Health Risk Conflicting classifications of pathogenicity Crigler-Najjar syndrome, Lucey-Driscoll syndrome
RS769721080 CFI Health Risk Pathogenic/Likely pathogenic, low penetrance Factor I deficiency, Factor I deficiency
RS769721689 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS769721856 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS769721953 EP300 Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS769721985 BIN1 Health Risk Conflicting classifications of pathogenicity —
RS769723202 CUL7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769723975 PRPH2 Health Risk Pathogenic Retinitis pigmentosa, PRPH2-related disorder
RS769724508 IFT43 Health Risk Pathogenic Short-rib thoracic dysplasia 18 with polydactyly, Short rib-polydactyly syndrome
RS769724628 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS769725005 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS769726248 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS769726608 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS769727966 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-related disorder
RS76972797 MAK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Familial pancreatic carcinoma
RS769729405 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS769729466 DTNA Health Risk Conflicting classifications of pathogenicity —
RS769730471 CUL4B Health Risk Conflicting classifications of pathogenicity —
RS769731317 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS769732230 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS769733603 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS769734824 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769734918 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS769735016 ANK1 Health Risk Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS769735492 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS769735682 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS769735757 EDNRB Health Risk risk factor Hirschsprung disease, susceptibility to
RS769736356 HSF4 Health Risk Conflicting classifications of pathogenicity Cataract 5 multiple types, Inborn genetic diseases
RS769736863 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS769737896 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS769738331 PDE6C Health Risk Pathogenic/Likely pathogenic Cone dystrophy 4, Cone dystrophy 4
RS769739410 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS769739938 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS769740240 SLC52A3 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1
RS769740744 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group F, Fanconi anemia
RS769741088 PEX5 Health Risk Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS769741414 MOGS Health Risk Conflicting classifications of pathogenicity MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS769741655 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS769742160 SNX14 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS769742202 CDH23 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS769742294 CD46 Health Risk Pathogenic/Likely pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
RS769742496 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS769742563 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS76974316 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS769743354 GABRA1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 19
RS769743634 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS769744387 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS769744438 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS769744692 SETD1A Health Risk Likely pathogenic —
RS769746453 ACY1 Health Risk Conflicting classifications of pathogenicity Aminoacylase 1 deficiency, Aminoacylase 1 deficiency
RS769746703 REN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769748483 GLYCTK Health Risk Conflicting classifications of pathogenicity —
RS769748910 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS769748915 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS769748960 ELP1 Health Risk Pathogenic/Likely pathogenic Medulloblastoma, Familial dysautonomia
RS769749610 NUP85 Health Risk Conflicting classifications of pathogenicity —
RS769750286 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS769750483 GNAT1 Health Risk Pathogenic —
RS769751060 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS769751385 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS769751841 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS769752636 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS769753487 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A
RS769754801 PPM1D Health Risk Likely pathogenic —
RS769755490 EEF2 Health Risk Conflicting classifications of pathogenicity —
RS769755656 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS769756403 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS769756450 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS769756528 FGF8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769756688 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS769757245 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS769758485 HMCN1 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, Age related macular degeneration 1
RS769761582 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS769761723 VWA1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS769762387 DRD4 Health Risk Conflicting classifications of pathogenicity Hereditary attention deficit-hyperactivity disorder, DRD4-related disorder
RS769765227 NEU1 Health Risk Pathogenic Sialidosis, Sialidosis type 2
RS769766030 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS769766392 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS769766446 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS769766820 COL2A1 Health Risk Conflicting classifications of pathogenicity —
« Prev 1 ... 3516 3517 3518 3519 3520 3521 3522 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →