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
RS780750448 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases
RS780750526 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS780750721 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS780751282 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS780751870 PEX7 Health Risk Likely pathogenic Peroxisome biogenesis disorder 9B, Melanoma
RS780752648 FLVCR1 Health Risk Conflicting classifications of pathogenicity —
RS780753361 PAX5 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS780754563 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS780755928 TCIRG1 Health Risk Pathogenic —
RS780756440 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS780757016 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS780757165 MYSM1 Health Risk Pathogenic Bone marrow failure syndrome 4, Bone marrow failure syndrome 4
RS780757228 LDLR Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypercholesterolemia
RS780757700 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS780758815 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS780758839 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS780758909 GANAB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GANAB-related disorder
RS780759354 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS780759537 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS780760018 GPD1L Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS780760081 ALG13 Health Risk Conflicting classifications of pathogenicity —
RS780761368 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS780761880 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS780762234 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS780762236 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS780762265 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, ALPL-related disorder
RS780765144 ABCC2 Health Risk Pathogenic ABCC2-related disorder, ABCC2-related disorder
RS780765199 TG Health Risk Pathogenic —
RS780766289 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS780768015 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS780768926 TTN Health Risk Likely pathogenic TTN-related disorder, TTN-related disorder
RS780770024 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS780770356 PLOD2 Health Risk Pathogenic/Likely pathogenic 9 conditions, Bruck syndrome 2
RS780770984 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS780772018 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS780772404 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS780774091 PROP1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS780774341 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS780775497 PAK3 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 30
RS780775598 MRE11 Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder
RS780776360 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS780776637 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780776865 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS780777015 OPTN Health Risk Pathogenic Primary open angle glaucoma, Glaucoma 1
RS780777061 GATM Health Risk Conflicting classifications of pathogenicity Seizure, Arginine:glycine amidinotransferase deficiency
RS780777484 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780778324 TRIP13 Health Risk Conflicting classifications of pathogenicity Oocyte maturation defect 9, Mosaic variegated aneuploidy syndrome 3
RS780778758 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS780779563 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS780780422 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780783562 SERAC1 Health Risk Likely pathogenic —
RS780783747 KCNQ2 Health Risk Likely pathogenic —
RS780784090 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS780784592 HLA-DRB1 Health Risk Pathogenic Pulmonary artery atresia, Pulmonary artery atresia
RS780785242 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 6 conditions
RS780785403 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS780786843 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS780787175 AGPAT3 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS780787386 GDF3 Health Risk Likely pathogenic —
RS780788513 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS780788687 LITAF Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease
RS780789145 VRK1 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A, Neuronopathy
RS780789330 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS780789569 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Inborn genetic diseases
RS780789822 MRTFA Health Risk Conflicting classifications of pathogenicity —
RS780790022 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS780790767 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Infantile hypophosphatasia
RS780791970 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780792039 TNFRSF1A Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, TNF receptor-associated periodic fever syndrome (TRAPS)
RS780794124 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS780794164 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS780794381 FLVCR1 Health Risk Pathogenic —
RS780795453 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS780798399 RTN4IP1 Health Risk Pathogenic —
RS780798665 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS780798708 CFAP44 Health Risk Pathogenic Spermatogenic failure 20, Spermatogenic failure 20
RS780799275 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS780799832 SERPING1 Health Risk Pathogenic —
RS780799984 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, TRIM32-related disorder
RS780800306 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS780801708 STAC3 Health Risk Likely pathogenic Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
RS780802447 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780802517 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS780802518 TMPRSS15 Health Risk Pathogenic Enterokinase deficiency, Enterokinase deficiency
RS780802614 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS780803192 FBP1 Health Risk Pathogenic/Likely pathogenic Fructose-biphosphatase deficiency, FBP1-related disorder
RS780803693 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS780804532 CSF1R Health Risk Pathogenic Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS780805483 SZT2 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS780805788 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS780805963 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS780805985 DRC4 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 33, Inborn genetic diseases
RS780806777 GAMT Health Risk Pathogenic/Likely pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS780807321 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS780808580 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS780809068 ADGRA3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS780809852 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS780810116 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS780810308 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS780810538 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
« Prev 1 ... 3693 3694 3695 3696 3697 3698 3699 ... 4509 Next »

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

Get Started Free →