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
RS185829704 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS185832993 MMP13 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia
RS185836404 FREM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1858381810 PTEN Health Risk Conflicting classifications of pathogenicity —
RS185838502 IDH3B Health Risk Pathogenic —
RS185838939 COG6 Health Risk Conflicting classifications of pathogenicity COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation
RS1858394001 PTEN Health Risk Pathogenic/Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS1858395868 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS1858396813 DEAF1 Health Risk Pathogenic Intellectual disability-epilepsy-extrapyramidal syndrome, Intellectual disability-epilepsy-extrapyramidal syndrome
RS1858399718 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS185840586 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS185841477 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS1858423393 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1858438320 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS185846631 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS185850413 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS185859960 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1858619779 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS1858626738 FANCF Health Risk Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS1858634363 FANCF Health Risk Pathogenic Fanconi anemia complementation group F, Fanconi anemia
RS1858634789 FANCF Health Risk Likely pathogenic FANCF-related disorder, FANCF-related disorder
RS1858636931 FANCF Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS185863881 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS185865505 HERC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HERC2-related disorder
RS1858669268 SPTAN1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 5
RS1858699106 DYNC2H1 Health Risk Likely pathogenic DYNC2H1-related disorder, DYNC2H1-related disorder
RS185870650 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS1858717597 IGF2 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1858720964 TMEM216 Health Risk Likely pathogenic Joubert syndrome 2, Joubert syndrome 2
RS185873402 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1858735439 TMEM216 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome 2
RS1858737558 TMEM216 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 2, Joubert syndrome 2
RS1858779370 IGF2 Health Risk Likely pathogenic Silver-Russell syndrome 3, Silver-Russell syndrome 3
RS1858795121 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1858816064 TRPC6 Health Risk Pathogenic Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS1858816107 TRPC6 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS1858817266 TRPC6 Health Risk Pathogenic —
RS185883069 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS185887755 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS185891286 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
RS1858924087 NDUFC2 Health Risk Pathogenic Mitochondrial disease, Mitochondrial complex I deficiency
RS185892516 PSAP Health Risk Conflicting classifications of pathogenicity Combined PSAP deficiency, Gaucher disease due to saposin C deficiency
RS1858932834 IGF2 Health Risk Pathogenic Silver-Russell syndrome 3, Silver-Russell syndrome 3
RS1858936079 IGF2 Health Risk Pathogenic Silver-Russell syndrome 3, Silver-Russell syndrome 3
RS1858937182 IGF2 Health Risk Pathogenic Silver-Russell syndrome 3, Silver-Russell syndrome 3
RS1858937359 IGF2 Health Risk Pathogenic Silver-Russell syndrome 3, Wilms tumor 1
RS1858943245 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS185897034 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa
RS185898118 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS185905012 GAA Health Risk Conflicting classifications of pathogenicity —
RS185906233 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia, Paroxysmal nonkinesigenic dyskinesia 1
RS1859088426 NDUFC2 Health Risk Pathogenic Mitochondrial disease, Mitochondrial complex I deficiency
RS1859093459 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1859098783 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1859099242 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1859099759 PTEN Health Risk Pathogenic —
RS1859100502 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1859111016 EBF3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS185911369 ALS2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 2, juvenile
RS185913426 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related Meckel-like syndrome
RS185913608 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS185913848 TTN Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS185916020 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS1859177429 IGHMBP2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS185924037 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Inborn genetic diseases
RS185924269 DNAL1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 16, Primary ciliary dyskinesia 16
RS1859258788 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS1859264278 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS185927948 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS185931752 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS185936129 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS185940313 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS185941768 SCN4A Health Risk Conflicting classifications of pathogenicity Potassium-aggravated myotonia, Hypokalemic periodic paralysis
RS1859419489 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS1859424641 KMT5B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 51
RS185943390 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS185947256 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS1859507049 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1859531540 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1859555583 MMP20 Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A2, Amelogenesis imperfecta hypomaturation type 2A2
RS1859577030 EBF3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1859580827 HPS5 Health Risk Pathogenic —
RS185960737 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS185962498 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1859672389 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1859684125 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS1859684230 EBF3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS185971062 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS185972191 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Hereditary fructosuria
RS185976555 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, OPA1-related disorder
RS1859771094 ALG8 Health Risk Likely pathogenic ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS185977448 ANKLE2 Health Risk Conflicting classifications of pathogenicity —
RS1859801386 PTEN Health Risk Likely pathogenic —
RS185980145 CSRP3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy
RS1859802811 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1859804141 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1859804665 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1859805185 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS185980830 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
RS185984960 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
« Prev 1 ... 1292 1293 1294 1295 1296 1297 1298 ... 4509 Next »

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

Get Started Free →