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
RS72648975 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS72648980 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS72648981 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS72648989 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS72648990 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS72648994 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS72648995 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS72648997 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS72649848 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS72649856 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS72650008 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS72650011 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiomyopathy
RS72650019 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS72650020 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS72650030 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS72650031 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS72650034 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS72650035 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS72650036 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS72650040 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS72650057 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS72650062 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS72650064 TTN Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS72650077 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS72650080 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS72650362 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, SLC4A4-related disorder
RS72650666 IL2RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, IL2RA-related disorder
RS72650671 PTPN22 Health Risk Conflicting classifications of pathogenicity PTPN22-related disorder, PTPN22-related disorder
RS72650674 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS72650677 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS72650678 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS72650680 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS72650695 GIMAP5;GIMAP1-GIMAP5 Health Risk Conflicting classifications of pathogenicity Portal hypertension, noncirrhotic
RS72650697 ABCC6 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS72650698 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS72650699 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS72650700 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS72650701 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS72650702 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS72650717 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS72650720 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS72650763 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS72650764 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS72650768 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS72651613 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS72651614 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae
RS72651615 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae
RS72651618 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS72651619 COL1A1 Health Risk Pathogenic —
RS72651620 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS72651621 COL1A1 Health Risk Pathogenic COL1A1-related disorder, Osteogenesis imperfecta type I
RS72651622 COL1A1 Health Risk Pathogenic —
RS72651623 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS72651626 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS72651631 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, COL1A1-related disorder
RS72651632 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS72651634 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS72651635 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS72651639 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS72651640 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, COL1A1-related disorder
RS72651641 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type III
RS72651642 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae
RS72651643 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS72651644 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Thyroid cancer
RS72651645 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type I
RS72651646 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS72651647 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS72651648 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS72651651 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS72651653 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, perinatal lethal
RS72651654 COL1A1 Health Risk Likely pathogenic —
RS72651657 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS72651658 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS72651659 COL1A1 Health Risk Pathogenic —
RS72651661 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS72651663 COL1A1 Health Risk Pathogenic —
RS72651666 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS72651667 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS72651668 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS72653059 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS72653060 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS72653061 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS72653063 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS72653071 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS72653073 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS72653074 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS72653076 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS72653077 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS72653078 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS72653083 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS72653084 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS72653090 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS72653091 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS72653092 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS72653093 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS72653095 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS72653097 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS72653098 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS72653100 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS72653102 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
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