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
RS767518580 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS767518932 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS767520089 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS767520227 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS767520406 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS767521281 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS767523458 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS767523704 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS767525556 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS767526540 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS767527649 HOXD13 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS767527819 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, ELP1-Associated Medulloblastoma
RS767528365 RPE65 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, RPE65-related recessive retinopathy
RS767528614 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS767529084 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS767529359 AUTS2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder due to AUTS2 deficiency, AUTS2-related disorder
RS767529587 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS767529592 TRIOBP Health Risk Likely pathogenic TRIOBP-related disorder, TRIOBP-related disorder
RS767530768 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS767530943 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS767533378 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS767533401 MYH11 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection
RS767533596 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS767533946 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS767534576 CACNA1A Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS767534980 TIA1 Health Risk Conflicting classifications of pathogenicity Welander distal myopathy, Welander distal myopathy
RS767535015 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, Inborn genetic diseases
RS76753536 APOA5 Health Risk Conflicting classifications of pathogenicity Familial type 5 hyperlipoproteinemia, Hypertriglyceridemia 1
RS767535853 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS76753586 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS767536068 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS767536391 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS767536788 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS767537938 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS767537996 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS767539005 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica
RS767539150 ZFC3H1 Health Risk Likely pathogenic Short stature, Short stature
RS767539728 MPDZ Health Risk Likely pathogenic —
RS767540194 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 43
RS767541018 GTF2H5 Health Risk Likely pathogenic —
RS767541153 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS767543051 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS767543227 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS767543274 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS767543583 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS767543623 NUBPL Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 21
RS767544239 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS767546831 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS767546915 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS76754818 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS767548512 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Bleeding disorder
RS767548647 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS767548724 TGFB3 Health Risk Likely pathogenic Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1
RS767549924 CTBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767550452 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS767550455 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS767550584 HNF1A Health Risk Conflicting classifications of pathogenicity HNF1A-related disorder, HNF1A-related disorder
RS767550929 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS767552861 MSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767553206 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS767553658 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS767554181 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 5, Retinal dystrophy
RS767554563 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS767555361 BRWD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767557391 EIF2AK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767558518 POLR3B Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Charcot-Marie-Tooth disease
RS767558735 SAMD9 Health Risk Conflicting classifications of pathogenicity Normophosphatemic familial tumoral calcinosis, Monosomy 7 myelodysplasia and leukemia syndrome 2
RS767559716 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS767560143 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS767560639 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS767560852 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS767560916 MYSM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767561828 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
RS767562322 RP1L1 Health Risk Likely pathogenic —
RS767563000 TAT Health Risk Conflicting classifications of pathogenicity Tyrosinemia type II, Tyrosinemia type II
RS767563168 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS767564345 TG Health Risk Likely pathogenic —
RS767564445 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS767564684 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS767564863 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767565606 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS767565869 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS767566180 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS767566761 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS767567119 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767567428 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS767568799 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS767568897 LIPT1 Health Risk Likely pathogenic Lipoyl transferase 1 deficiency, Lipoyl transferase 1 deficiency
RS767569116 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS767569346 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS767569709 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS767570081 ADGRV1 Health Risk Pathogenic Febrile seizures, familial
RS767571327 PRDM5 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS767571919 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS767572643 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS767574122 HGSNAT Health Risk Likely pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS767575019 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS767575537 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS767575696 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS767576240 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
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