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
RS780203284 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS780203392 EYA1 Health Risk Pathogenic Branchiootic syndrome 1, Branchiootic syndrome 1
RS780204400 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS780205618 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS780205801 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS780206104 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS780209007 HCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS780209390 COL25A1 Health Risk Pathogenic Fibrosis of extraocular muscles, congenital
RS780209394 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS780209880 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS780210232 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS780210480 IFT172 Health Risk Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS780210539 TBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with autism and speech delay
RS780211105 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780212657 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS780212718 MVD Health Risk Pathogenic Porokeratosis 7, multiple types
RS780213373 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 11
RS780214155 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS780215837 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS780218375 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS780219663 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS780221020 SALL1 Health Risk Likely pathogenic —
RS780221317 SLC12A6 Health Risk Pathogenic —
RS780221881 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS780224196 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS780224658 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS780224924 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS780225183 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS780226142 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS780227281 UROD Health Risk Pathogenic/Likely pathogenic Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS780227798 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS780228848 NUP188 Health Risk Pathogenic Sandestig-stefanova syndrome, NUP188-related disorder
RS780229320 SON Health Risk Conflicting classifications of pathogenicity —
RS780229500 NLRC4 Health Risk Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4
RS780230204 TMEM67 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS780230492 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS780230539 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780230934 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS780231573 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS780232995 GLB1 Health Risk Conflicting classifications of pathogenicity Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3
RS780233639 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS780233935 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS780234545 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS780235686 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS780236670 SERPINI1 Health Risk Conflicting classifications of pathogenicity Familial encephalopathy with neuroserpin inclusion bodies, Inborn genetic diseases
RS780236727 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS780237166 CNGB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS780237513 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, Paroxysmal nocturnal hemoglobinuria 1
RS780237550 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS780237847 TMPRSS15 Health Risk Pathogenic —
RS780238349 PPARG Health Risk Likely pathogenic —
RS780239925 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS780239941 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Inborn genetic diseases
RS780240314 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS780240951 DNHD1 Health Risk Likely pathogenic —
RS780242725 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS780243244 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS780243284 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS780244460 DPM1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type 1E, DPM1-related disorder
RS780246932 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS780247153 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS780247256 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Retinal dystrophy
RS780247476 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS780247729 NEK8 Health Risk Likely pathogenic Nephronophthisis 9, Renal-hepatic-pancreatic dysplasia 2
RS780248969 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS780249576 CHRNG Health Risk Pathogenic Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS780249987 CEP250 Health Risk Pathogenic —
RS780251209 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Complement component 3 deficiency
RS780252152 SETD1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780252175 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS780252276 GSN Health Risk Conflicting classifications of pathogenicity —
RS780252799 HADH Health Risk Uncertain significance/Uncertain risk allele Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS780253174 F5 Health Risk Pathogenic Congenital factor V deficiency, F5-related disorder
RS780256503 GLI3 Health Risk Likely pathogenic GLI3-related disorder, GLI3-related disorder
RS780256979 SLC4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 11 conditions
RS780258721 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS780258990 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS780259089 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS780260086 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780260522 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780260944 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS780261399 PRMT9 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS780261665 COL7A1 Health Risk Pathogenic Palmoplantar blistering, Finger syndactyly
RS780261824 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780262392 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS78026291 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS780263494 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS780263878 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS780263938 GLI3 Health Risk risk factor Congenital diaphragmatic hernia, Congenital diaphragmatic hernia
RS780264058 CC2D1A Health Risk Likely pathogenic —
RS780264323 TANGO2 Health Risk Pathogenic/Likely pathogenic Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
RS780264754 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy
RS780264811 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary retinoblastoma
RS780264945 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS780265931 ARMC9 Health Risk Likely pathogenic ARMC9-related Joubert syndrome, Joubert syndrome
RS780266075 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS780266883 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS780267559 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS780267653 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS780267761 LZTR1 Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder, Hereditary cancer-predisposing syndrome
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