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
RS757230587 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS757230924 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS757231239 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS757231565 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS757231578 FN1 Health Risk Conflicting classifications of pathogenicity FN1-related disorder, Inborn genetic diseases
RS757232346 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS757233170 EDAR Health Risk Likely pathogenic Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A
RS75723433 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS757237504 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS757238055 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS757239023 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS757240576 MAP2K2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS757240900 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS757241673 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS757242261 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS757242487 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS757243984 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS757243985 FREM2 Health Risk Likely pathogenic —
RS757244518 SLC4A11 Health Risk Pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS757245615 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS757246221 GPR179 Health Risk Conflicting classifications of pathogenicity —
RS757247313 PALM Health Risk Conflicting classifications of pathogenicity —
RS757247849 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS757248672 SYNE4 Health Risk Pathogenic —
RS757249400 RARS1 Health Risk Likely pathogenic —
RS757249676 MAEL Health Risk Likely pathogenic Male infertility, Male infertility
RS757250956 MLC1 Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS757251412 COQ9 Health Risk Conflicting classifications of pathogenicity Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Inborn genetic diseases
RS757251437 MTMR14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Autosomal dominant centronuclear myopathy
RS757251877 LAMB2 Health Risk Likely pathogenic LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS757252110 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS757252384 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10
RS757252494 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS757252832 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS757252849 GBA2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 46, Neurodevelopmental disorder
RS757252885 ASPM Health Risk Pathogenic ASPM-related disorder, ASPM-related disorder
RS757253624 IFT172 Health Risk Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS757253926 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS757254927 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS757255802 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS757256051 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS757256314 AP3B2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757259023 PARD3 Health Risk risk factor Neural tube defect, Neural tube defect
RS757259401 LMOD3 Health Risk Pathogenic —
RS757259413 ELP4;PAX6 Health Risk Pathogenic/Likely pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS757260058 SIGMAR1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2
RS757260904 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS757261031 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS757261714 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS757261752 IVD Health Risk Likely pathogenic —
RS757264014 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS757264206 FBN1 Health Risk Conflicting classifications of pathogenicity Stiff skin syndrome, Acromicric dysplasia
RS757264535 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS757264957 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Inborn genetic diseases
RS757265256 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS757266656 GCK Health Risk Conflicting classifications of pathogenicity Hyperinsulinism due to glucokinase deficiency, Permanent neonatal diabetes mellitus
RS757267294 NHLRC2 Health Risk Pathogenic Fibrosis, neurodegeneration
RS757267575 BMP1 Health Risk Pathogenic —
RS757268030 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS757268536 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS757268664 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS757274362 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS757274577 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS757274881 TP53 Health Risk Pathogenic Ovarian neoplasm, Li-Fraumeni syndrome
RS757275103 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Malignant tumor of urinary bladder
RS757275351 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757275646 F11 Health Risk Likely pathogenic —
RS757275923 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS757276241 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS757276569 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS757277027 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757277769 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS757278862 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS757279881 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS757280513 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS757280832 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS757281286 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS757281872 CABP2 Health Risk Conflicting classifications of pathogenicity —
RS757282598 RBBP8 Health Risk Conflicting classifications of pathogenicity Jawad syndrome, Seckel syndrome 2
RS757282628 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS757283184 HMOX1 Health Risk Likely pathogenic —
RS757286692 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS757286784 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS757289680 SLC16A2 Health Risk Likely pathogenic —
RS757290084 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS757290350 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS757290764 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Tetralogy of Fallot
RS757291476 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS757291528 TYRP1 Health Risk Pathogenic —
RS757292066 NKX2-6 Health Risk Likely pathogenic; risk factor Conotruncal heart malformations, Cerebral palsy
RS757294519 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS757294568 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS757294772 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS757295540 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS757297254 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS757299093 CYP11A1 Health Risk Pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS757299200 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS757299831 SPINK5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757300247 SMCHD1 Health Risk Conflicting classifications of pathogenicity —
RS757300563 ZNF469 Health Risk Conflicting classifications of pathogenicity —
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