SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS994337239 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS994355873 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS994372113 ERCC6 Health Risk Pathogenic —
RS994374354 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS994404687 SIX5 Health Risk Conflicting classifications of pathogenicity —
RS994411940 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
RS994415333 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS994416299 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS994417916 ASAH1 Health Risk Likely pathogenic —
RS994418105 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS994458759 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Keratitis fugax hereditaria
RS994470407 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS994473385 HID1 Health Risk Pathogenic Developmental and epileptic encephalopathy 105 with hypopituitarism, Developmental and epileptic encephalopathy 105 with hypopituitarism
RS994493921 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS994516309 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS994582379 GLE1 Health Risk Conflicting classifications of pathogenicity Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal arthrogryposis-anterior horn cell disease syndrome
RS994627256 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS994651018 EPHB4 Health Risk Pathogenic —
RS994749504 TLE6 Health Risk Likely pathogenic —
RS994750899 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS994764994 CYP21A2 Health Risk Conflicting classifications of pathogenicity —
RS994823423 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS994896967 PHKG2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXc, Glycogen phosphorylase kinase deficiency
RS994902207 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis
RS994917847 FASTKD2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44
RS994920789 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS994956358 DNAH9 Health Risk Pathogenic —
RS994969301 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS994986229 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS995007189 MIB1 Health Risk Likely pathogenic —
RS995015088 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS995029896 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS995030286 MARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS995036419 CEP152 Health Risk Pathogenic/Likely pathogenic Seckel syndrome 5, Microcephaly 9
RS995045417 SMAD3 Health Risk Conflicting classifications of pathogenicity Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS995045434 STX1B Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 9
RS995056553 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS995065177 GRK1 Health Risk Likely pathogenic Oguchi disease-2, Oguchi disease-2
RS995077080 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS995084790 UBR7 Health Risk Likely pathogenic Li-Campeau syndrome, Li-Campeau syndrome
RS995093343 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS995111248 TMEM63C Health Risk Conflicting classifications of pathogenicity —
RS995147980 COL6A3 Health Risk Likely pathogenic —
RS995182027 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS995254814 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS995264302 QDPR Health Risk Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS995265408 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS995265434 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS995271451 SIN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS995271490 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS995285513 PRKG2 Health Risk Pathogenic Acromesomelic dysplasia 4, Acromesomelic dysplasia 4
RS995312903 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS995323393 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Neurodevelopmental abnormality
RS995358248 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS995403413 SHOC2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome-like disorder with loose anagen hair 1, Cardiovascular phenotype
RS995427170 OSTM1 Health Risk Pathogenic —
RS995436631 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS995472329 GPSM2 Health Risk Conflicting classifications of pathogenicity Chudley-McCullough syndrome, Inborn genetic diseases
RS995473632 RAF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS995493100 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS995516204 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS995523352 NOTCH3 Health Risk Pathogenic/Likely pathogenic —
RS995534431 CERT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS995537756 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS995574419 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS995579204 POLE Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia
RS995590193 POLR3A Health Risk Pathogenic —
RS995629797 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS995644762 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS995674389 SCARB2 Health Risk Conflicting classifications of pathogenicity Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy
RS995684800 AQP2 Health Risk Likely pathogenic —
RS995707317 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS995736633 GP6 Health Risk Pathogenic —
RS995746723 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS995767778 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS995773912 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS995774322 ZNF711 Health Risk Conflicting classifications of pathogenicity —
RS995777798 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS995812794 POMT2 Health Risk Pathogenic —
RS995878595 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS995882071 CACNA1H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy
RS995995791 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS996004696 ACAD9 Health Risk Pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS996042036 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS996086612 RECQL Health Risk Conflicting classifications of pathogenicity —
RS996150018 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS996152549 SCN3B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS996175008 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS996182477 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS996233345 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS996281789 THBD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS996333495 CEP78 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 1, Retinal dystrophy
RS996348255 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS996375589 ZNF462 Health Risk Likely pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS996389327 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS996404334 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS996419100 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS996435066 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS996440530 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS996451417 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
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