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
RS774598396 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS774599785 CHST3 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS774601444 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS774602107 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS774602954 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS774603418 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS77460377 DTNBP1 Health Risk Conflicting classifications of pathogenicity Hepatocellular carcinoma, Gastric cancer
RS774603798 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS774604155 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS774604596 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS774604668 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS774604740 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS774605091 PIGV Health Risk Conflicting classifications of pathogenicity Elevated circulating alkaline phosphatase concentration, Elevated circulating alkaline phosphatase concentration
RS774605197 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS774605205 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS774605759 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS774606469 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS774606496 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Inborn genetic diseases
RS774606576 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS774606640 MPDZ Health Risk Pathogenic —
RS774607018 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS774607571 AARS2 Health Risk Likely pathogenic Leukoencephalopathy, progressive
RS774607582 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS774609232 TTN Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, Ventricular fibrillation
RS774610091 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS774610098 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS774610143 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS774610686 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS774610958 NAF1 Health Risk Conflicting classifications of pathogenicity —
RS774612231 CEP250 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 2, Thyroid cancer
RS774614159 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS774614339 CFAP410 Health Risk Pathogenic/Likely pathogenic See cases, Retinal dystrophy with or without macular staphyloma
RS774615547 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS774616573 DONSON Health Risk Pathogenic Meier-Gorlin syndrome, Meier-Gorlin syndrome
RS77461664 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS774616642 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Inborn genetic diseases
RS774618681 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS774619692 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS774619760 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS774621554 GLI2 Health Risk Conflicting classifications of pathogenicity Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS774622686 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS774625105 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiovascular phenotype
RS774625619 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS774626343 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS774626474 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS77462662 WT1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 4
RS774626751 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS774627405 ZNF408 Health Risk Conflicting classifications of pathogenicity —
RS774628152 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS774628957 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 3, Joubert syndrome
RS774629025 NR4A2 Health Risk Likely pathogenic Inborn genetic diseases, Neurodevelopmental disorder
RS774629715 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS774630352 OTOF Health Risk Likely pathogenic —
RS774630592 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774631197 PLA2G6 Health Risk Pathogenic Autosomal recessive Parkinson disease 14, Autosomal recessive Parkinson disease 14
RS774631263 RUNX2 Health Risk Likely pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS774631375 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS774632615 SPTA1 Health Risk Likely pathogenic Anemia, SPTA1-related disorder
RS774632798 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, HARS1-related disorder
RS774637214 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS774637488 PYROXD1 Health Risk Pathogenic —
RS774638624 TMEM70 Health Risk Pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS774638728 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS774640608 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS774641536 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS774641579 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS774643105 SAMD9L Health Risk Conflicting classifications of pathogenicity Ataxia-pancytopenia syndrome, Inborn genetic diseases
RS774643457 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS774644201 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS774644234 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS774645319 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS774645374 TJP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774645775 AR Health Risk Pathogenic Prostate cancer, Prostate cancer
RS774646420 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS774648195 RDH5 Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS774648274 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS774648411 MOGS Health Risk Conflicting classifications of pathogenicity MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS774648747 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774648833 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS774648934 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Renal tubulopathies
RS774649299 LARS2 Health Risk Pathogenic/Likely pathogenic Perrault syndrome 4, Perrault syndrome 4
RS774649954 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS77464996 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Malignant tumor of urinary bladder
RS774650533 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS774650640 WT1 Health Risk Likely pathogenic Drash syndrome, Frasier syndrome
RS774651252 SLC5A1 Health Risk Likely pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS774652075 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS774652817 PKLR Health Risk Pathogenic/Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase hyperactivity
RS774653437 NEFL Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS774653711 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS774653782 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS774654020 GRHPR Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
RS774654232 RAPSN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS774654439 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Ovarian cancer
RS774657169 SH3PXD2B Health Risk Likely pathogenic —
RS774657340 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS774657424 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Inborn genetic diseases
RS774657642 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS774657844 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS774658482 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
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