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
RS387906589 ACVR1 Health Risk Pathogenic/Likely pathogenic Progressive myositis ossificans, Inborn genetic diseases
RS387906590 ACVR1 Health Risk Pathogenic Progressive myositis ossificans, Progressive myositis ossificans
RS387906591 ACVR1 Health Risk Pathogenic Progressive myositis ossificans, Progressive myositis ossificans
RS387906592 ACTA2 Health Risk Pathogenic Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease 5
RS387906593 IFNGR1 Health Risk Pathogenic Immunodeficiency 27A, Immunodeficiency 27A
RS387906594 ATP2A2 Health Risk Pathogenic Acrokeratosis verruciformis of Hopf, Acrokeratosis verruciformis of Hopf
RS387906595 BLVRA Health Risk Pathogenic Hyperbiliverdinemia, Hyperbiliverdinemia
RS387906596 BLVRA Health Risk Pathogenic Hyperbiliverdinemia, Hyperbiliverdinemia
RS387906597 BMP4 Health Risk Pathogenic Orofacial cleft 11, Microphthalmia with brain and digit anomalies
RS387906598 CA8 Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS387906599 CHN1 Health Risk Pathogenic Duane retraction syndrome 2, Duane retraction syndrome 2
RS387906601 CYP11A1 Health Risk Pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS387906602 COL4A2 Health Risk Pathogenic Porencephaly 2, Porencephaly 2
RS387906603 COL4A2 Health Risk Pathogenic Porencephaly 2, Porencephaly 2
RS387906604 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS387906605 COL7A1 Health Risk Pathogenic Transient bullous dermolysis of the newborn, Transient bullous dermolysis of the newborn
RS387906606 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS387906608 COL6A2 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1B, Ullrich congenital muscular dystrophy 1B
RS387906609 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, BETHLEM MYOPATHY 1B
RS387906610 COL6A2 Health Risk Pathogenic/Likely pathogenic Collagen 6-related myopathy, Bethlem myopathy 1A
RS387906611 COL11A1 Health Risk Pathogenic Fibrochondrogenesis, Fibrochondrogenesis
RS387906612 GJA5 Health Risk Pathogenic Atrial fibrillation, familial
RS387906613 GJA5 Health Risk Pathogenic Atrial fibrillation, familial
RS387906614 GJA5 Health Risk Pathogenic Atrial fibrillation, familial
RS387906615 GJA5 Health Risk Pathogenic Atrial fibrillation, familial
RS387906616 GJA1 Health Risk Pathogenic Oculodentodigital dysplasia, Oculodentodigital dysplasia
RS387906618 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS387906619 DHFR Health Risk Pathogenic Constitutional megaloblastic anemia with severe neurologic disease, Constitutional megaloblastic anemia with severe neurologic disease
RS387906620 NT5E Health Risk Pathogenic Hereditary arterial and articular multiple calcification syndrome, Hereditary arterial and articular multiple calcification syndrome
RS387906621 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS387906622 FBN1 Health Risk Pathogenic Acromicric dysplasia, Geleophysic dysplasia 2
RS387906623 FBN1 Health Risk Likely pathogenic Geleophysic dysplasia 2, Familial thoracic aortic aneurysm and aortic dissection
RS387906624 FBN1 Health Risk Pathogenic Geleophysic dysplasia 2, Acromicric dysplasia
RS387906625 FBN1 Health Risk Pathogenic/Likely pathogenic Geleophysic dysplasia 2, Familial thoracic aortic aneurysm and aortic dissection
RS387906626 FBN1 Health Risk Pathogenic/Likely pathogenic Acromicric dysplasia, Marfan syndrome
RS387906627 FUS Health Risk Pathogenic Amyotrophic lateral sclerosis type 6, Tremor
RS387906628 FUS Health Risk Pathogenic Amyotrophic lateral sclerosis type 6, Amyotrophic lateral sclerosis type 6
RS387906629 GATA2 Health Risk Likely pathogenic Monocytopenia with susceptibility to infections, Leukemia
RS387906631 GATA2 Health Risk Likely pathogenic Myelodysplastic syndrome, Leukemia
RS387906632 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS387906633 GATA2 Health Risk Pathogenic/Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS387906634 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS387906635 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS387906636 GRIN2B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 6
RS387906637 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS387906639 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Inborn genetic diseases
RS387906640 KRT10 Health Risk Pathogenic Epidermolytic hyperkeratosis 2B, autosomal recessive
RS387906641 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS387906642 KIF11 Health Risk Conflicting classifications of pathogenicity Microcephaly with or without chorioretinopathy, lymphedema
RS387906643 KIF11 Health Risk Conflicting classifications of pathogenicity Microcephaly with or without chorioretinopathy, lymphedema
RS387906644 LAMB2 Health Risk Pathogenic/Likely pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS387906645 MSR1 Health Risk Pathogenic BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA, BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA
RS387906646 MAK Health Risk Likely pathogenic Retinitis pigmentosa 62, Retinal dystrophy
RS387906647 MAK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 62, Retinal dystrophy
RS387906648 MAK Health Risk Pathogenic Retinitis pigmentosa 62, Retinitis pigmentosa
RS387906649 MAX Health Risk Pathogenic Pheochromocytoma, susceptibility to
RS387906650 MAX Health Risk Pathogenic Pheochromocytoma, susceptibility to
RS387906651 MAX Health Risk Pathogenic Pheochromocytoma, susceptibility to
RS387906652 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS387906653 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS387906654 SLC20A2 Health Risk Conflicting classifications of pathogenicity Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS387906655 MOG Health Risk Pathogenic Narcolepsy 7, Narcolepsy 7
RS387906657 MYBPC1 Health Risk Pathogenic Arthrogryposis, distal
RS387906658 MYBPC1 Health Risk Pathogenic Arthrogryposis, distal
RS387906659 AKT2 Health Risk Pathogenic Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type 2 diabetes mellitus
RS387906660 BRAF Health Risk Pathogenic Noonan syndrome 7, Noonan syndrome 1
RS387906661 BRAF Health Risk Pathogenic/Likely pathogenic Cardiofaciocutaneous syndrome 1, LEOPARD syndrome 3
RS387906662 CSF1R Health Risk Pathogenic Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS387906663 WNT5A Health Risk Likely pathogenic Autosomal dominant Robinow syndrome 1, Autosomal dominant Robinow syndrome 1
RS387906664 CBL Health Risk Conflicting classifications of pathogenicity Noonan syndrome-like disorder with juvenile myelomonocytic leukemia, RASopathy
RS387906665 CBL Health Risk Conflicting classifications of pathogenicity Noonan syndrome-like disorder with juvenile myelomonocytic leukemia, RASopathy
RS387906666 CBL Health Risk Likely pathogenic Juvenile myelomonocytic leukemia, Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
RS387906667 PRRX1 Health Risk Pathogenic Agnathia-otocephaly complex, Agnathia-otocephaly complex
RS387906668 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS387906669 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS387906670 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS387906673 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS387906674 PROS1 Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein S deficiency, autosomal dominant
RS387906675 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal recessive
RS387906676 FGFR2 Health Risk Pathogenic/Likely pathogenic Crouzon syndrome, FGFR2-related craniosynostosis
RS387906677 FGFR2 Health Risk Pathogenic Bent bone dysplasia syndrome 1, Bent bone dysplasia syndrome 1
RS387906678 FGFR2 Health Risk Likely pathogenic Bent bone dysplasia syndrome 1, Inborn genetic diseases
RS387906679 PRKCG Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS387906680 PSMB8 Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 1, Proteasome-associated autoinflammatory syndrome 1
RS387906682 SLC5A2 Health Risk Pathogenic Familial renal glucosuria, Familial renal glucosuria
RS387906683 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS387906684 SCN2A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 11
RS387906685 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS387906686 SCN2A Health Risk Likely pathogenic Episodic ataxia, type 9
RS387906687 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS387906688 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS387906689 CSTA Health Risk Pathogenic Peeling skin syndrome 4, Peeling skin syndrome 4
RS387906690 NR5A1 Health Risk Pathogenic Spermatogenic failure 8, Spermatogenic failure 8
RS387906691 TBXA2R Health Risk risk factor Bleeding disorder, platelet-type
RS387906692 PRKAR1A Health Risk Pathogenic Acrodysostosis 1 with or without hormone resistance, Carney complex
RS387906694 PRKAR1A Health Risk Pathogenic Acrodysostosis 1 with or without hormone resistance, Acrodysostosis 1 with or without hormone resistance
RS387906695 PRKAR1A Health Risk Pathogenic Acrodysostosis 1 with or without hormone resistance, Acrodysostosis 1 with or without hormone resistance
RS387906697 TGFBR1 Health Risk Pathogenic Multiple self-healing squamous epithelioma, Familial thoracic aortic aneurysm and aortic dissection
RS387906698 PRSS1 Health Risk Pathogenic/Likely pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS387906700 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome
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