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
RS387906701 NAA10 Health Risk Pathogenic Ogden syndrome, Microphthalmia
RS387906702 SMC1A Health Risk Pathogenic/Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases
RS387906703 RPS6KA3 Health Risk Pathogenic Intellectual disability, X-linked 19
RS387906704 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS387906705 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS387906706 SMPX Health Risk Pathogenic Hearing loss, X-linked 4
RS387906707 SMPX Health Risk Pathogenic Hearing loss, X-linked 4
RS387906708 SMPX Health Risk Pathogenic Hearing loss, X-linked 4
RS387906709 UBQLN2 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
RS387906710 UBQLN2 Health Risk Pathogenic Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
RS387906711 UBQLN2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
RS387906713 CHRDL1 Health Risk Pathogenic Megalocornea, Megalocornea
RS387906714 CHRDL1 Health Risk Pathogenic Megalocornea, Megalocornea
RS387906715 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS387906716 WAS Health Risk Likely pathogenic X-linked severe congenital neutropenia, Wiskott-Aldrich syndrome
RS387906717 WAS Health Risk Pathogenic/Likely pathogenic X-linked severe congenital neutropenia, Wiskott-Aldrich syndrome
RS387906718 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS387906719 MID1 Health Risk Pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS387906720 FRMD7 Health Risk Pathogenic Nystagmus 1, congenital
RS387906721 FRMD7 Health Risk Pathogenic Nystagmus 1, congenital
RS387906722 AMER1 Health Risk Pathogenic Osteopathia striata with cranial sclerosis, Osteopathia striata with cranial sclerosis
RS387906724 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS387906725 HPRT1 Health Risk Pathogenic Lesch-nyhan syndrome, neurologic variant
RS387906726 PIGA Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS387906727 RPL10 Health Risk risk factor Autism, susceptibility to
RS387906728 UBE2A Health Risk Pathogenic Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type
RS387906729 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Inborn genetic diseases
RS387906733 MT-TH Health Risk Likely pathogenic Mitochondrial non-syndromic sensorineural hearing loss, MELAS syndrome
RS387906736 MT-TW Health Risk Likely pathogenic Mitochondrial encephalomyopathy, Mitochondrial disease
RS387906737 DLX5 Health Risk Pathogenic Split hand-foot malformation 1 with sensorineural hearing loss, Split hand-foot malformation 1 with sensorineural hearing loss
RS387906738 DYNC1H1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
RS387906739 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 13
RS387906740 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 13
RS387906741 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Neuronopathy
RS387906743 DYNC1H1 Health Risk Likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Charcot-Marie-Tooth disease axonal type 2O
RS387906744 PDE4D Health Risk Pathogenic Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
RS387906745 TEK Health Risk Pathogenic/Likely pathogenic Multiple cutaneous and mucosal venous malformations, Vascular skin disorders
RS387906746 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS387906747 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS387906748 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS387906749 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS387906750 AKR1C2 Health Risk Pathogenic 46, XY disorder of sex development due to testicular 17
RS387906751 AKR1C2 Health Risk Pathogenic 46, XY disorder of sex development due to testicular 17
RS387906752 MASP1 Health Risk Pathogenic 3MC syndrome 1, 3MC syndrome 1
RS387906753 MASP1 Health Risk Pathogenic 3MC syndrome 1, 3MC syndrome 1
RS387906754 MASP1 Health Risk Pathogenic 3MC syndrome 1, 3MC syndrome 1
RS387906755 AUH Health Risk Pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS387906756 AUH Health Risk Pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS387906758 STAT1 Health Risk Pathogenic/Likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS387906759 STAT1 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS387906760 STAT1 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS387906761 STAT1 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS387906762 STAT1 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS387906763 STAT1 Health Risk Likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Inherited Immunodeficiency Diseases
RS387906764 STAT1 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS387906765 STAT1 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS387906766 STAT1 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS387906767 STAT1 Health Risk Likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS387906768 STAT1 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS387906769 GATA4 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 4, Tetralogy of Fallot
RS387906772 GATA4 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 2, GATA4-related disorder
RS387906773 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS387906775 NKX2-5 Health Risk Pathogenic Ventricular septal defect 3, Ventricular septal defect 3
RS387906777 PDX1 Health Risk Pathogenic Pancreatic agenesis 1, Permanent neonatal diabetes mellitus
RS387906778 KCNJ5 Health Risk Pathogenic Familial hyperaldosteronism type III, Aldosterone-producing adrenal adenoma
RS387906779 MTNR1B Health Risk risk factor Diabetes mellitus type 2, susceptibility to
RS387906780 SDHA Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Hereditary cancer-predisposing syndrome
RS387906781 MYLK Health Risk Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 7
RS387906782 MYLK Health Risk Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 7
RS387906784 IL11RA Health Risk Pathogenic Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies
RS387906785 IL11RA Health Risk Likely pathogenic Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies
RS387906786 IL11RA Health Risk Pathogenic Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies
RS387906787 IL11RA Health Risk Pathogenic Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies
RS387906788 MAP3K1 Health Risk Likely pathogenic 46, XY sex reversal 6
RS387906789 VCP Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS387906790 VCP Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS387906791 SCARB1 Health Risk association HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6, HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
RS387906792 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease axonal type 2N
RS387906793 FOXE3 Health Risk Pathogenic Congenital primary aphakia, Cataract 34 multiple types
RS387906798 KIF1A Health Risk Likely pathogenic Spastic paraplegia 30B, autosomal recessive
RS387906799 KIF1A Health Risk Pathogenic Intellectual disability, autosomal dominant 9
RS387906800 MAP2K2 Health Risk Pathogenic Cardiofaciocutaneous syndrome 4, RASopathy
RS387906801 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS387906802 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS387906803 MUSK Health Risk Likely pathogenic Congenital myasthenic syndrome 9, Congenital myasthenic syndrome 9
RS387906804 TUSC3 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 7
RS387906806 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS387906807 MYO1E Health Risk Pathogenic Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6
RS387906808 NCF4 Health Risk Pathogenic Granulomatous disease, chronic
RS387906809 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder 4B
RS387906810 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS387906812 SMARCB1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 15
RS387906813 GATA6 Health Risk Pathogenic Persistent truncus arteriosus, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
RS387906814 GATA6 Health Risk Conflicting classifications of pathogenicity Tetralogy of Fallot, Atrioventricular septal defect 5
RS387906816 GATA6 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 9, Tetralogy of Fallot
RS387906817 GATA6 Health Risk Pathogenic Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
RS387906818 GATA6 Health Risk Pathogenic Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Abnormal cardiovascular system morphology
RS387906819 GATA6 Health Risk Pathogenic Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
RS387906821 OSMR Health Risk Pathogenic Amyloidosis, primary localized cutaneous
RS387906822 OSMR Health Risk Pathogenic/Likely pathogenic Amyloidosis, primary localized cutaneous
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