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
RS751199223 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751199493 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS751200138 MYOM1 Health Risk Conflicting classifications of pathogenicity Non-immune hydrops fetalis, Hypertrophic cardiomyopathy
RS751201019 REST Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 27, Fibromatosis
RS751201972 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS751202110 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS751203209 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS751203255 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS751203469 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS751204853 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS751205624 PKDCC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751205887 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome, type I
RS751206379 DNASE1L3 Health Risk Pathogenic/Likely pathogenic Autosomal systemic lupus erythematosus type 16, DNASE1L3-related disorder
RS751209525 FLG Health Risk Pathogenic —
RS751210164 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS751210873 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 42, early-onset
RS751213743 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS751214954 APOC2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS751215527 KAT6B Health Risk Likely pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS751216221 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS751216225 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS751216831 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS751216929 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS751217000 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS751217859 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS751218423 CLUAP1 Health Risk Pathogenic Leber congenital amaurosis, Toriello-Lacassie-Droste syndrome
RS751220612 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Usher syndrome type 1D
RS751221446 SOX11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751221923 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS751221993 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS751222088 IFT81 Health Risk Pathogenic/Likely pathogenic SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY, Short-rib thoracic dysplasia 19 with or without polydactyly
RS751222355 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS751222632 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Dilated cardiomyopathy 1G
RS751223288 CEP290 Health Risk Pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS751223917 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS751225159 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS751225193 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS751225252 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS751226641 SLC16A2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS751227210 ERLIN2 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS751228166 ABCC8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Type 2 diabetes mellitus
RS751228412 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS751228587 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS751230035 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Primary familial dilated cardiomyopathy
RS751230398 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS751231315 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS751231371 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS751231466 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
RS751231538 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS751232153 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS751232315 RERE Health Risk Pathogenic —
RS751234195 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS751234287 CHRNG Health Risk Likely pathogenic Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS751235198 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS751235320 SERPINA1 Health Risk Pathogenic/Likely pathogenic PI NULL(WEST), Alpha-1-antitrypsin deficiency
RS751235573 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS751235722 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases
RS751236287 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS751236312 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS751236317 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS751236442 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Cobalamin C disease
RS751236477 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS751236516 SIL1 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS751237539 CHRND Health Risk Likely pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS751237748 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS751239059 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS751239116 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS751239231 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751239911 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, Inborn genetic diseases
RS751240491 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Noonan syndrome 9
RS751242146 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS751242312 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
RS751242409 LZTFL1 Health Risk Likely pathogenic —
RS751242426 PCNT Health Risk Pathogenic PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II
RS751242455 MYO7A Health Risk Conflicting classifications of pathogenicity Deafness, Hearing loss
RS751244947 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Nephrolithiasis/nephrocalcinosis
RS751245494 PCGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751246453 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS751247185 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS751247865 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis
RS751247956 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS751248523 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS751249367 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS751249656 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS751249745 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS751250105 APTX Health Risk Conflicting classifications of pathogenicity Ataxia, early-onset
RS751250810 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS751250875 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS751251720 MBD5 Health Risk Conflicting classifications of pathogenicity Chromosome 2q23.1 deletion syndrome, Intellectual disability
RS751251777 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS751251863 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS751252941 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS751253294 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS751253358 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Encephalopathy
RS751254270 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS751254522 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O
RS751256504 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder
RS751257411 CRLF1 Health Risk Conflicting classifications of pathogenicity —
RS751257954 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS751259650 RGS9 Health Risk Likely pathogenic —
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