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
RS761748737 CHD7 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, CHD7-related disorder
RS761748894 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS761749382 NR0B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital adrenal hypoplasia
RS761749884 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS761749948 EPHB2 Health Risk Pathogenic Bleeding disorder, platelet-type
RS761750183 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS761750861 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS761750882 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Nonpapillary renal cell carcinoma
RS761752355 CDK13 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, dysmorphic facial features
RS761752580 MOCOS Health Risk Pathogenic/Likely pathogenic Xanthinuria type II, Xanthinuria type II
RS761753486 CDH1 Health Risk Pathogenic/Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS761753966 GRIA2 Health Risk Likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS761754626 KCNH1 Health Risk Conflicting classifications of pathogenicity Temple-Baraitser syndrome, Zimmermann-Laband syndrome 1
RS761755398 KLHL7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS761756462 NDUFV1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS761757153 ZNF106;CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS761759814 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS76175991 MMUT Health Risk Pathogenic —
RS761760327 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS761760689 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Retinitis pigmentosa
RS761761205 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS761762294 NR0B1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hypoplasia, X-linked
RS761763159 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS761763671 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS761763725 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS761764078 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS761765384 SPTA1 Health Risk Pathogenic —
RS761765455 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS761765709 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS761765983 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS761766766 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
RS761767389 GTSF1 Health Risk Likely pathogenic Male infertility, Male infertility
RS761768458 ANKRD26 Health Risk Conflicting classifications of pathogenicity ANKRD26-related disorder, Inborn genetic diseases
RS761768992 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS761770500 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS761770946 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS761771473 MECR Health Risk Pathogenic Dystonia, childhood-onset
RS761772657 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS761773115 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS761773211 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS761773470 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS761773567 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS761774161 CTRC Health Risk Pathogenic Hereditary pancreatitis, Hereditary pancreatitis
RS761774772 ECHS1 Health Risk Likely pathogenic —
RS761774962 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS761775030 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS761775649 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS761775711 CNNM4 Health Risk Conflicting classifications of pathogenicity Jalili syndrome, Jalili syndrome
RS761775758 KANSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761776136 AQP2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS761776963 HRG Health Risk Pathogenic/Likely pathogenic Familial early-onset deep venous thrombosis, Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
RS761779919 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS761780097 CYP27B1 Health Risk Pathogenic Vitamin D-dependent rickets, type 1A
RS761780458 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS761780956 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS761781827 ODAD3 Health Risk Pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS761782258 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS761783446 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS761784130 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS761784169 ABCC9 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS761784230 ATP8B1 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS761785586 ARL13B Health Risk Likely pathogenic Joubert syndrome 8, Joubert syndrome 8
RS761785619 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS761785906 COQ2 Health Risk Conflicting classifications of pathogenicity Multiple system atrophy 1, susceptibility to
RS761786389 DCX Health Risk Likely pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation
RS761786834 REEP6 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS761787042 CBS Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS761787794 NDUFAF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761789460 B4GALT7 Health Risk Pathogenic Spondylodysplastic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome progeroid type
RS761789667 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS761790583 BSCL2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 17, Congenital generalized lipodystrophy type 2
RS761790685 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS761791412 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Inborn genetic diseases
RS761792490 PUS3 Health Risk Pathogenic/Likely pathogenic Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
RS761793156 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS761793564 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS761794669 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS761795138 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, EGFR-related disorder
RS761795343 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS761795743 PPP1R12A Health Risk Likely pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS761795827 DNAH9 Health Risk Pathogenic —
RS761796175 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS761796364 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS761796969 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella-like renal disease
RS761797236 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3
RS761797334 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Inborn genetic diseases
RS761798023 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS761798208 ACP5 Health Risk Pathogenic/Likely pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS761798713 TCTN3 Health Risk Pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS761798774 ACADSB Health Risk Pathogenic ACADSB-related disorder, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS761799119 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS761799414 CEP250 Health Risk Likely pathogenic —
RS761799512 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS761799688 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS761799851 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS761801345 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS761801479 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS761802581 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS761802703 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS761803462 SLC19A2 Health Risk Pathogenic —
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