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
RS183191346 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Jeune thoracic dystrophy
RS183191959 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, FAT4-related disorder
RS183195890 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS183197573 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS183204825 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS183204936 SGCG Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Sarcoglycanopathy
RS183208638 PGAP3 Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS183208875 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS183214630 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS183218622 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS1832192414 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1832200861 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Inborn genetic diseases
RS183220684 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1832230836 COQ4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS183223259 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS183230983 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS1832340912 NR5A1 Health Risk Pathogenic Oligosynaptic infertility, 46
RS183238138 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS183238369 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS1832447335 NR5A1 Health Risk Pathogenic 46, XX sex reversal 4
RS1832448970 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS1832453675 ABCA1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS183245562 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1832456567 NR5A1 Health Risk Pathogenic Oligosynaptic infertility, 46
RS1832458239 NR5A1 Health Risk Pathogenic/Likely pathogenic Genetic non-acquired premature ovarian failure, 46
RS183247300 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1832493257 NR5A1 Health Risk Pathogenic Oligosynaptic infertility, 46
RS1832494273 NR5A1 Health Risk Pathogenic/Likely pathogenic Oligosynaptic infertility, 46
RS1832496555 NR5A1 Health Risk Likely pathogenic —
RS1832496590 NR5A1 Health Risk Likely pathogenic 46, XY sex reversal 3
RS1832499155 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS183251531 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS183252158 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS183254966 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS183255090 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS183256997 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS1832583187 RELN Health Risk Pathogenic Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS183258549 PTPRQ Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A
RS183258737 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS183261121 DNAH14 Health Risk Conflicting classifications of pathogenicity —
RS183261547 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1832615643 VPS13A Health Risk Likely pathogenic —
RS1832615773 VPS13A Health Risk Likely pathogenic —
RS1832616472 VPS13A Health Risk Pathogenic —
RS183261797 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS183262122 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS183263185 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1832680700 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS1832681636 COL27A1 Health Risk Pathogenic —
RS1832691674 VPS13A Health Risk Pathogenic —
RS1832698457 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS1832712113 VPS13A Health Risk Pathogenic —
RS183272965 SELENON Health Risk Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion, Eichsfeld type congenital muscular dystrophy
RS1832756019 SLC27A4 Health Risk Likely pathogenic —
RS183276016 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS183276533 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS1832767186 SLC27A4 Health Risk Pathogenic —
RS183276875 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS183278868 TTN Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1832802732 SLC27A4 Health Risk Likely pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS183280626 GABRA1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 19
RS1832811905 COL27A1 Health Risk Likely pathogenic —
RS1832838063 KCNT1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 14
RS183284555 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS183285809 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS1832871459 LARP4B Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS183288709 NDUFA13 Health Risk Conflicting classifications of pathogenicity —
RS1832898282 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS1832899364 GATA3 Health Risk Pathogenic Congenital anomaly of kidney and urinary tract, Hypoparathyroidism
RS183296277 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1832966881 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1832979860 RELN Health Risk Pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1832998425 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
RS1833004339 INVS Health Risk Pathogenic Nephronophthisis, Infantile nephronophthisis
RS183301169 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS183302003 TRIT1 Health Risk Conflicting classifications of pathogenicity —
RS1833029885 SEPHS1 Health Risk Conflicting classifications of pathogenicity VERVERI-BRADY SYNDROME 2, SEPHS1-related developmental delay
RS1833052702 FOCAD Health Risk Pathogenic Liver disease, severe congenital
RS183306159 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Erythrokeratodermia variabilis et progressiva 6
RS1833089251 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1833092121 VPS13B Health Risk Pathogenic/Likely pathogenic Abnormality of the nervous system, Cohen syndrome
RS183309645 OTOF Health Risk Conflicting classifications of pathogenicity —
RS1833108141 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS183312399 CCDC88C Health Risk Conflicting classifications of pathogenicity Hydrocephalus, nonsyndromic
RS183316447 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS183318466 RHO Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 1, Congenital stationary night blindness autosomal dominant 1
RS183319660 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS183319966 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS183322775 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS183322816 B3GLCT Health Risk Conflicting classifications of pathogenicity Peters plus syndrome, Peters plus syndrome
RS1833240016 CARD9 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS1833255504 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1833258579 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1833261804 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS183328334 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS183328495 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS183330533 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1833331932 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS183333679 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1833357461 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
« Prev 1 ... 1271 1272 1273 1274 1275 1276 1277 ... 4509 Next »

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

Get Started Free →