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
RS74864455 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS748644914 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS748645037 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS748645116 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS748648178 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS748648802 DHCR24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748648909 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS748649917 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748650244 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS748650667 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS748650780 DPF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748651137 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Chondrosarcoma
RS748652333 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748652746 PLOD2 Health Risk Conflicting classifications of pathogenicity —
RS748654180 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Polycystic kidney disease 2
RS748654543 TG Health Risk Likely pathogenic —
RS748655442 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS748655443 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS748656635 WDR19 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Nephronophthisis 13
RS748656792 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS748657435 ABCB4 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis
RS748657880 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS748658007 HPRT1 Health Risk Conflicting classifications of pathogenicity Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
RS748658606 CEP83 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 18, Inborn genetic diseases
RS748659009 CPT1C Health Risk Pathogenic Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS748659068 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS748659198 LYST Health Risk Likely pathogenic —
RS748660256 ZFYVE27 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS748660310 STK4 Health Risk Pathogenic Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
RS748662135 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS748663329 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS748663340 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS748663568 NEMF Health Risk Pathogenic —
RS748663740 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS748663904 TTC21B Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS748664291 TRPS1 Health Risk Pathogenic —
RS748664881 RSPH4A Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS748665278 HCN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 24
RS748665739 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS748666715 FAN1 Health Risk Pathogenic/Likely pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS748666817 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Osteochondritis dissecans
RS748666965 SOX10 Health Risk Conflicting classifications of pathogenicity SOX10-related disorder, SOX10-related disorder
RS748667010 CDC73 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hyperparathyroidism 1
RS748667559 PRDM5 Health Risk Conflicting classifications of pathogenicity —
RS748668603 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS748668786 C2CD3 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
RS748669016 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS748669377 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS748669519 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS748669919 KDM4B Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 65
RS748670315 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS748670822 TRIO Health Risk Pathogenic/Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Intellectual developmental disorder
RS748671901 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS748672083 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS748672127 CEP135 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS748672380 NTRK1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis
RS748674098 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS748674194 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS748674789 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Inborn genetic diseases
RS748675191 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS748675395 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS748676621 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS748676671 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS748676766 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS748678066 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS748678280 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS748678337 DNAH9 Health Risk Pathogenic —
RS748678625 MBTPS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748679499 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS748680209 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS748680704 GRK1 Health Risk Pathogenic Oguchi disease-2, Retinal dystrophy
RS748680802 RPS6KA3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 19
RS748681103 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS748681475 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Acute myeloid leukemia
RS748682601 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS748684063 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS748684065 ELAC2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS748684128 BEST1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS748684395 GLE1 Health Risk Pathogenic —
RS748684688 BMPR2 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS748685592 BEST1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive bestrophinopathy, Vitelliform macular dystrophy 2
RS748685997 MPZL2 Health Risk Likely pathogenic Hearing loss, autosomal recessive 111
RS748686068 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS748687181 POLRMT Health Risk Pathogenic Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
RS748688174 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS748688175 GAS8 Health Risk Pathogenic Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
RS748689368 SLC4A11 Health Risk Pathogenic —
RS748689554 PEX3 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 10A (Zellweger), Peroxisome biogenesis disorder 10A (Zellweger)
RS748689777 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS748691653 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS748691963 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS748692173 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS748692597 OCA2 Health Risk Conflicting classifications of pathogenicity —
RS748692809 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS748693257 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS748693944 DNAAF2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS748694238 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS748694848 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS748694853 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS748695461 CBS Health Risk Pathogenic Classic homocystinuria, Homocystinuria
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