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
RS758477536 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS758478717 NPR2 Health Risk Conflicting classifications of pathogenicity Short stature with nonspecific skeletal abnormalities, Acromesomelic dysplasia 1
RS758478864 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758480654 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Familial cancer of breast
RS758482171 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS758482424 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS758482449 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS758482493 ARSG Health Risk Pathogenic —
RS758483877 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS758484631 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758485261 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS758486336 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS758486944 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS758487568 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS758487727 COL7A1 Health Risk Pathogenic —
RS758487789 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS758487924 SEC63 Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 2, Biliary tract abnormality
RS75848804 FGG Health Risk Pathogenic Hereditary spastic paraplegia 4, Congenital afibrinogenemia
RS758488919 GSDME Health Risk Conflicting classifications of pathogenicity Nonsyndromic genetic hearing loss, GSDME-related disorder
RS758489218 OTOG Health Risk Conflicting classifications of pathogenicity —
RS758490440 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS758491296 CYP24A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypercalcemia
RS758491525 TAT Health Risk Pathogenic/Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS758493174 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS758493460 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS758493823 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS758494245 TERT Health Risk Conflicting classifications of pathogenicity Interstitial lung disease 2, Pulmonary fibrosis and/or bone marrow failure
RS758494304 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS758494581 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS758494772 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS758495626 SELENBP1 Health Risk Likely pathogenic Extra oral halitosis, Extraoral halitosis due to methanethiol oxidase deficiency
RS758495950 GCK Health Risk Conflicting classifications of pathogenicity Hyperinsulinism due to glucokinase deficiency, Maturity-onset diabetes of the young type 2
RS758496577 DEAF1 Health Risk Conflicting classifications of pathogenicity —
RS758497476 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS758498215 GRM6 Health Risk Likely pathogenic —
RS758498345 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, FANCM-related disorder
RS758498695 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS758498850 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS758499040 PPP1R13L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758499439 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS758500749 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS758500897 KIF5A Health Risk Conflicting classifications of pathogenicity Myoclonus, intractable
RS758502850 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS758503371 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS758503440 NPC2 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C2
RS758503693 DGUOK Health Risk Conflicting classifications of pathogenicity —
RS758504284 NFIX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758504480 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS758505358 TGM5 Health Risk Pathogenic —
RS758505511 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758505618 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS758506007 KLHL15 Health Risk Conflicting classifications of pathogenicity —
RS758506159 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS758506791 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS758506896 EPS8 Health Risk Conflicting classifications of pathogenicity —
RS758506938 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS758507327 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS758508750 DVL1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 2, Inborn genetic diseases
RS758509148 ETFB Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia IIc
RS758509542 APOA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS758511419 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS758512747 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS758513686 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS758513858 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS758514260 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS758515608 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, F11-related disorder
RS758516007 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS758517117 SMARCA4 Health Risk Pathogenic/Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS758517215 PHGDH Health Risk Likely pathogenic PHGDH deficiency, PHGDH deficiency
RS758518373 NDUFS7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial complex I deficiency
RS758520331 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS758521897 COG1 Health Risk Pathogenic COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS758521939 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS758521946 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS758522459 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Inborn genetic diseases
RS758522600 BBS10 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Bardet-Biedl syndrome 10
RS758523519 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS758523839 MARS1 Health Risk Likely pathogenic Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS758524310 MED25 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
RS758524873 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS758524907 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS75852730 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS758528026 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Pheochromocytoma/paraganglioma syndrome 3
RS758528624 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS758529293 TMX2 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS758531526 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758533436 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS758534800 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Cardiovascular phenotype
RS758536777 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS758537157 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS758539045 CNNM4 Health Risk Conflicting classifications of pathogenicity Jalili syndrome, Jalili syndrome
RS758539309 COQ8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758539671 DMXL2 Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Acute myeloid leukemia
RS758539676 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS758539727 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS758539748 MRPS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 36, Combined oxidative phosphorylation deficiency 36
RS758541435 TTI2 Health Risk Conflicting classifications of pathogenicity Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
RS758542203 GFI1 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS758542279 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS758542643 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
« Prev 1 ... 3333 3334 3335 3336 3337 3338 3339 ... 4509 Next »

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

Get Started Free →