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
RS1554394506 AKR1D1 Health Risk Likely pathogenic —
RS1554395323 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1554395370 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1554395411 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1554395431 COL1A2 Health Risk Pathogenic Inborn genetic diseases, Osteogenesis imperfecta type I
RS1554395470 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1554395471 COL1A2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1554395656 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1554395833 COL1A2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Osteogenesis imperfecta
RS1554395903 COL1A2 Health Risk Pathogenic —
RS1554395970 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS1554396083 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1554396162 COL1A2 Health Risk Pathogenic —
RS1554396271 COL1A2 Health Risk Likely pathogenic Inborn genetic diseases, Ehlers-Danlos syndrome
RS1554396283 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS1554396355 COL1A2 Health Risk Pathogenic —
RS1554396361 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1554396384 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1554396393 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1554396612 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1554396615 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1554396679 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1554396680 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1554396832 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1554396895 DLD Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1554396908 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1554396917 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS1554396983 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1554397133 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS1554397197 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1554397275 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1554397369 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1554397464 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1554397497 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1554397506 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1554397515 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1554397527 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1554397593 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1554397621 COL1A2 Health Risk Likely pathogenic —
RS1554397750 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1554397769 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1554397772 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1554397774 KCTD7 Health Risk Likely pathogenic Inborn genetic diseases, Progressive myoclonic epilepsy type 3
RS1554397834 KCTD7 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS1554397852 RELN Health Risk Pathogenic —
RS1554397975 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1554398092 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1554398094 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1554398126 COL1A2 Health Risk Pathogenic —
RS1554398193 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1554398251 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1554398261 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1554398264 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1554398361 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS1554398396 COL1A2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Ehlers-Danlos syndrome
RS1554398461 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1554398510 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1554398624 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1554398625 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1554398674 FLNC Health Risk Pathogenic Cardiovascular phenotype, Myofibrillar myopathy 5
RS1554398705 FLNC Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1554398835 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1554399014 FLNC Health Risk Pathogenic Dilated Cardiomyopathy, Dominant
RS1554399513 FLNC Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS1554399572 AGK Health Risk Pathogenic Sengers syndrome, Sengers syndrome
RS1554400021 FLNC Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1554400179 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1554400242 FLNC Health Risk Pathogenic/Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1554400286 MET Health Risk Pathogenic; risk factor Arthrogryposis, distal
RS1554400338 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1554400483 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1554400699 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1554400700 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1554400703 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS1554400704 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1554400713 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1554400720 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1554400962 FLNC Health Risk Conflicting classifications of pathogenicity Restrictive cardiomyopathy, Cardiovascular phenotype
RS1554401324 ABCB4 Health Risk Pathogenic —
RS1554401344 ABCB4 Health Risk Pathogenic —
RS1554401403 FLNC-AS1;FLNC Health Risk Likely pathogenic Restrictive cardiomyopathy, Restrictive cardiomyopathy
RS1554401434 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1554401561 FLNC Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Distal myopathy with posterior leg and anterior hand involvement
RS1554401581 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1554401640 AGK Health Risk Pathogenic Sengers syndrome, Sengers syndrome
RS1554401641 AGK Health Risk Pathogenic Sengers syndrome, Sengers syndrome
RS1554401756 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1554401780 FLNC Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS1554401811 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS1554401830 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1554401837 FLNC Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1554402003 FLNC Health Risk Pathogenic/Likely pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1554402015 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1554402092 CAMK2B Health Risk Pathogenic Intellectual disability, autosomal dominant 54
RS1554403310 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS1554403626 TSPAN12 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS1554403767 TSPAN12 Health Risk Pathogenic Vitreoretinopathy, Vitreoretinopathy
RS1554404013 RELN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554404337 RELN Health Risk Likely pathogenic —
RS1554404338 RELN Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
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