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
RS546729596 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS546732114 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Inborn genetic diseases
RS546735701 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, ALDOB-related disorder
RS546737191 PNPO Health Risk Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures, Inborn genetic diseases
RS546741834 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS546742857 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS546747242 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS546751789 LIAS Health Risk Likely pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS546757986 LMNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS546761850 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS546764418 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fraser syndrome 1
RS546776797 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS546788276 C6 Health Risk Likely pathogenic —
RS546799731 DDX59 Health Risk Likely pathogenic Orofaciodigital syndrome V, Orofaciodigital syndrome V
RS546802775 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS546805063 TCTN3 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 18, Orofacial-digital syndrome IV
RS546812521 PPP2R1A Health Risk Likely pathogenic Houge-Janssens syndrome 2, Neoplasm
RS546816780 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS546817580 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS546820887 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS546821182 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS546825674 BMPR1A Health Risk Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli, Generalized juvenile polyposis/juvenile polyposis coli
RS546831778 CNGA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS546841812 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS546845105 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS546849670 SCN5A Health Risk Conflicting classifications of pathogenicity Sick sinus syndrome 1, Brugada syndrome 1
RS546851135 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS546856641 F7 Health Risk Conflicting classifications of pathogenicity Factor VII deficiency, Congenital factor VII deficiency
RS546865056 MED13L Health Risk Likely pathogenic —
RS546865410 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS546869744 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS546871592 FLG Health Risk Pathogenic —
RS546878201 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS546888007 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS546890057 CRYGC Health Risk Conflicting classifications of pathogenicity Nuclear pulverulent cataract, Inborn genetic diseases
RS546890576 ALG3 Health Risk Pathogenic/Likely pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS546892762 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS546898924 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS546902024 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS546902674 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS546905091 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder
RS546906441 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS546908184 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS546924823 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS546927781 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS546932016 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS546933529 IDUA Health Risk Conflicting classifications of pathogenicity Hurler syndrome, Mucopolysaccharidosis type 1
RS546939043 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS546939045 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS546948362 WFS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cataract 41
RS546957016 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS546966892 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS546968533 ATP8A2 Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS546979072 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS546988105 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS546988577 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS546989392 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS546991789 FHOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS546995952 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS546999572 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS547000637 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS547005691 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy
RS547011629 LOX Health Risk Conflicting classifications of pathogenicity LOX-related disorder, LOX-related disorder
RS547012639 DHCR7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Smith-Lemli-Opitz syndrome
RS547013163 TKFC Health Risk Likely pathogenic TKFC deficiency, Inborn errors of metabolism
RS547014159 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS547014400 SPECC1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS547016377 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases
RS547019464 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS547028114 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS547032329 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS547034667 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Pituitary adenoma 5
RS547035706 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS547038802 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS547045780 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS547048377 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS547049916 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS547073881 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Inborn genetic diseases
RS547076322 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS547080919 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS547085733 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS547088539 TNFRSF11A Health Risk Conflicting classifications of pathogenicity —
RS547089139 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Inborn genetic diseases
RS547099804 PROB1 Health Risk Conflicting classifications of pathogenicity —
RS547109690 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS547116063 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Congenital hypothyroidism
RS547120028 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS547125345 CLN6 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS547137141 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 48
RS547142453 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS547147183 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS547150342 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS547158013 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS547171686 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Inborn genetic diseases
RS547172459 KCNE3 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 6, Cardiovascular phenotype
RS547173007 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, OTOG-related disorder
RS547175863 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, PLA2G6-associated neurodegeneration
RS547175985 ABCC6 Health Risk Conflicting classifications of pathogenicity Pseudoxanthoma elasticum, forme fruste
RS547177633 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS547184348 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
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