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
RS193922516 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS193922517 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS193922519 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS193922520 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS193922521 CFTR Health Risk Likely pathogenic Cystic fibrosis, CFTR-related disorder
RS193922523 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS193922524 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS193922526 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS193922528 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS193922529 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS193922532 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS193922538 CYP11B1 Health Risk Likely pathogenic Congenital adrenal hyperplasia, Deficiency of steroid 11-beta-monooxygenase
RS193922539 CYP11B1 Health Risk Likely pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS193922541 CYP11B1 Health Risk Likely pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS193922542 CYP11B1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia, Deficiency of steroid 11-beta-monooxygenase
RS193922544 CYP21A2 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia, CYP21A2-related disorder
RS193922545 CYP21A2 Health Risk Conflicting classifications of pathogenicity —
RS193922546 CYP21A2 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS193922552 HBB Health Risk Likely pathogenic beta Thalassemia, beta Thalassemia
RS193922553 HBB Health Risk Likely pathogenic Dominant beta-thalassemia, beta Thalassemia
RS193922555 HBB Health Risk Pathogenic beta Thalassemia, Beta-thalassemia HBB/LCRB
RS193922558 HBB Health Risk Conflicting classifications of pathogenicity Beta-thalassemia HBB/LCRB, 8 conditions
RS193922561 HBB Health Risk Conflicting classifications of pathogenicity —
RS193922562 HBB Health Risk Conflicting classifications of pathogenicity Fetal hemoglobin quantitative trait locus 1, beta Thalassemia
RS193922563 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS193922564 KCNJ11 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS193922565 KCNJ11 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS193922566 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS193922567 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1939225674 NPHP3 Health Risk Likely pathogenic —
RS193922568 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS193922569 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS193922571 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS193922572 RAG2 Health Risk Likely pathogenic Histiocytic medullary reticulosis, Recombinase activating gene 2 deficiency
RS193922573 RAG2 Health Risk Likely pathogenic Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency, Recombinase activating gene 2 deficiency
RS193922574 RAG2 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS193922576 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS193922578 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS193922582 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS193922583 HNF1A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS193922584 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS193922585 HNF1A Health Risk Conflicting classifications of pathogenicity Type 1 diabetes mellitus 20, Type 1 diabetes mellitus 20
RS193922588 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS193922591 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Ovarian cancer
RS193922592 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS193922593 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS193922594 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS193922596 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS193922598 HNF1A Health Risk Likely risk allele Maturity-onset diabetes of the young, Monogenic diabetes
RS193922599 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS193922600 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS193922601 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, 6 conditions
RS193922604 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS193922605 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS193922607 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS193922608 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS193922609 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS193922610 VHL Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Von Hippel-Lindau syndrome
RS193922611 VHL Health Risk Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS193922613 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS193922616 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Long QT syndrome
RS193922620 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2
RS193922622 RYR2 Health Risk Likely pathogenic Cardiac arrhythmia, Cardiac arrhythmia
RS193922623 RYR2 Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial
RS193922624 RYR2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS193922625 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiac arrhythmia
RS193922626 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2
RS193922628 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiovascular phenotype
RS193922635 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 1
RS193922637 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS193922638 CEL Health Risk Likely pathogenic Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
RS193922639 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS193922640 IL7R Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency disease, Immunodeficiency 104
RS193922641 IL7R Health Risk Pathogenic Severe combined immunodeficiency disease, Immunodeficiency 104
RS193922643 IL7R Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS193922644 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS193922645 IL7R Health Risk Likely pathogenic Severe combined immunodeficiency disease, Immunodeficiency 104
RS193922649 LAMP2 Health Risk Likely pathogenic Primary familial hypertrophic cardiomyopathy, Danon disease
RS193922650 LEPR Health Risk Likely pathogenic Obesity, Obesity
RS193922655 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS193922656 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS193922659 SPINK1 Health Risk Pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS193922660 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922661 TGFBR2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS193922664 TGFBR2 Health Risk Likely pathogenic Loeys-Dietz syndrome, Loeys-Dietz syndrome
RS193922665 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922667 CSRP3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 12
RS193922668 DSP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS193922671 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS193922672 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS193922673 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Familial isolated arrhythmogenic right ventricular dysplasia
RS193922674 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS193922679 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Rett syndrome
RS193922680 ACTC1 Health Risk Pathogenic Left ventricular noncompaction 4, Hypertrophic cardiomyopathy 11
RS193922681 ACTC1 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 11
RS193922682 IFNGR2 Health Risk Conflicting classifications of pathogenicity Interferon gamma receptor deficiency, Immunodeficiency 28
RS193922683 ABCC9 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Dilated cardiomyopathy 1O
RS193922685 MC4R Health Risk Likely pathogenic Obesity, Obesity
RS193922687 MC4R Health Risk Pathogenic/Likely pathogenic Obesity, Obesity due to melanocortin 4 receptor deficiency
RS193922688 PROP1 Health Risk Pathogenic/Likely pathogenic Pituitary hormone deficiency, combined
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