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
RS761412613 ALG13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS761413664 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761413806 CHRNG Health Risk Likely pathogenic —
RS761414130 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Drash syndrome
RS761415665 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS761416400 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS761417163 POLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Progressive sclerosing poliodystrophy
RS761417402 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS761420475 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS761421251 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS761424238 MYO3A Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS761424324 DHX32 Health Risk Conflicting classifications of pathogenicity —
RS761425145 HARS2 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 2, Perrault syndrome 2
RS761427653 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
RS761428155 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS761428338 PDE6B Health Risk Likely pathogenic —
RS761430243 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS761430319 APRT Health Risk Pathogenic —
RS761430357 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS761431597 HIBCH Health Risk Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS761432453 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS761433022 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS761433489 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS761433545 ABCC6 Health Risk Conflicting classifications of pathogenicity ABCC6-related disorder, Retinal dystrophy
RS761435025 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS761437689 ANO6 Health Risk Pathogenic SCOTT SYNDROME, SCOTT SYNDROME
RS761438840 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, neonatal form
RS761438921 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS761439213 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome
RS761439332 APP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alzheimer disease
RS761440038 RHOBTB2 Health Risk Conflicting classifications of pathogenicity —
RS76144052 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS761440783 FAM161A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 28
RS761440789 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS761441175 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS761443112 TMEM260 Health Risk Likely pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS761447719 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS761447734 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS761448939 SAMD11 Health Risk Pathogenic —
RS761449443 SOX18 Health Risk Conflicting classifications of pathogenicity Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Hypotrichosis-lymphedema-telangiectasia syndrome
RS76145073 HOMER2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HOMER2-related disorder
RS761451204 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761452056 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS761452695 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS761452916 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS761453030 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS761454123 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS761454264 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS761454301 DLL3 Health Risk Pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS761454766 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS761455000 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS761455237 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS761456442 PUS1 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS761456598 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS761458613 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS761458810 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS761458933 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS761458977 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS761459069 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS761459796 SLC12A1 Health Risk Pathogenic Bartter disease type 1, Bartter disease type 1
RS761459938 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS761460379 OPA1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Autosomal dominant optic atrophy classic form
RS761463158 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Nance-Horan syndrome
RS761463388 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS761463410 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS761464076 KCNT1 Health Risk Conflicting classifications of pathogenicity —
RS761464256 ECHS1 Health Risk Pathogenic/Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS761465345 USH1C Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS761465504 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS761467513 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS761468459 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS761468878 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS761469030 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS761469100 IFT81 Health Risk Likely pathogenic Short stature, Short stature
RS761469284 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS761469964 MYO7A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Usher syndrome type 1B
RS761470205 FBP1 Health Risk Pathogenic/Likely pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS761470284 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761470523 LRPPRC Health Risk Pathogenic —
RS761471961 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS761473300 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Legius syndrome
RS761475328 LAMC2 Health Risk Pathogenic LAMC2-related disorder, LAMC2-related disorder
RS761475402 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS761476887 TBCD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761477436 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS76147771 TEX15 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 25, Spermatogenic failure 25
RS761478767 MMP20 Health Risk Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A2, Amelogenesis imperfecta hypomaturation type 2A2
RS761478794 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS761479691 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761479779 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS76148000 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS76148008 MRPS22 Health Risk Conflicting classifications of pathogenicity Hypotonia with lactic acidemia and hyperammonemia, MRPS22-related disorder
RS761480287 DLL3 Health Risk Conflicting classifications of pathogenicity —
RS761480347 SLC39A8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761480737 MCCC1 Health Risk Conflicting classifications of pathogenicity Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS7614835 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS761483896 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Central core myopathy
RS761484877 SUCLA2 Health Risk Pathogenic —
RS761486084 TRMT1 Health Risk Pathogenic —
RS761486324 ATM Health Risk Pathogenic Cerebellar ataxia, Ataxia-telangiectasia syndrome
« Prev 1 ... 3380 3381 3382 3383 3384 3385 3386 ... 4509 Next »

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

Get Started Free →