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
RS767693329 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS767693366 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS767693909 ROBO3 Health Risk Likely pathogenic Gaze palsy, familial horizontal
RS767694281 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS767694507 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS767695215 SLC6A5 Health Risk Pathogenic Exaggerated startle response, Hyperekplexia 3
RS767695417 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS767695967 PKHD1 Health Risk Likely pathogenic —
RS767696409 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS767696555 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS767696694 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS767697835 PDGFRA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Polyps
RS767698069 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS767698543 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS767698763 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS767699562 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Cone-rod dystrophy 7
RS767700335 ASNS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767700639 RSPH1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767700692 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS767701527 AAAS Health Risk Pathogenic/Likely pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS767701661 COL2A1 Health Risk Pathogenic —
RS767702155 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS767702464 COL4A6 Health Risk Conflicting classifications of pathogenicity COL4A6-related disorder, COL4A6-related disorder
RS767702854 F2 Health Risk Likely pathogenic Prolonged prothrombin time, Prolonged prothrombin time
RS767702906 SLC52A1 Health Risk Conflicting classifications of pathogenicity Vitamin B2 deficiency, Vitamin B2 deficiency
RS767703629 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS767704163 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS767705612 PMFBP1 Health Risk Likely pathogenic Spermatogenic failure 31, Spermatogenic failure 31
RS767706572 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS767706636 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, ABCG8-related disorder
RS767707248 ABCA12 Health Risk Pathogenic —
RS767708438 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS767708806 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS767708918 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS767708989 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Mitochondrial disease
RS767709050 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS767709270 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS767709344 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Age related macular degeneration 5
RS767709505 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS767709648 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS767710036 ABCA1 Health Risk Conflicting classifications of pathogenicity —
RS767710222 SLC12A3 Health Risk Pathogenic —
RS767711383 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Kabuki syndrome 2
RS767711440 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, Joubert syndrome 14
RS767711515 CTNNA1 Health Risk Pathogenic —
RS767711818 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS767711936 MYCN Health Risk Conflicting classifications of pathogenicity —
RS767711979 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS767712281 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS767712486 USH2A Health Risk Likely pathogenic —
RS767712946 CTSA Health Risk Pathogenic/Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS767713084 ELP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS767713588 DNAAF5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 18
RS767713908 PSAP Health Risk Pathogenic/Likely pathogenic Sphingolipid activator protein 1 deficiency, Parkinson disease 24
RS767714019 SRCAP Health Risk Conflicting classifications of pathogenicity Developmental delay, hypotonia
RS767714232 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS767714543 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS767715328 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS767715436 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS767716511 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767717597 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS767717747 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS767718063 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS767718965 RECQL Health Risk Conflicting classifications of pathogenicity —
RS767719020 NPHP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome with renal defect, Senior-Loken syndrome 1
RS767720666 CDKN1B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS767720774 HPD Health Risk Conflicting classifications of pathogenicity Hawkinsinuria, Tyrosinemia type III
RS767721224 PRDM13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767721448 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS767722360 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS767722883 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS767723440 DUOX2 Health Risk Pathogenic —
RS767723684 DNAH17 Health Risk Pathogenic Spermatogenic failure 39, Spermatogenic failure 39
RS767723985 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Long QT syndrome
RS767724241 MYO3A Health Risk Pathogenic —
RS767724665 DSG4 Health Risk Pathogenic Hypotrichosis 6, Hypotrichosis 6
RS767725628 NEU1 Health Risk Pathogenic —
RS767727775 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS767728582 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS767729255 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19
RS767730323 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767730943 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Hennekam lymphangiectasia-lymphedema syndrome 2
RS767732033 WWOX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS767732779 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, SOS2-related disorder
RS767734253 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Atrial septal defect 5
RS767735975 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS767737392 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS767737417 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS767737749 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome 1
RS767739746 CDH23 Health Risk Pathogenic —
RS767739747 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS767739769 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS767739787 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Abnormality of the musculature
RS76773981 HMGCS2 Health Risk Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, HMGCS2-related disorder
RS767740137 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS767740333 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS767742108 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS767742135 USH2A Health Risk Pathogenic —
RS767743765 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS767743962 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome
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