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
RS568852704 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS568853401 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS568865061 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, PCDH15-related disorder
RS568865339 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS568867325 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS568871363 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS568880098 IFITM5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, IFITM5-related disorder
RS568885234 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS568886353 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS568895329 MATR3 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 21, Amyotrophic lateral sclerosis type 21
RS568898016 TULP1 Health Risk Conflicting classifications of pathogenicity —
RS568899040 ABCG8 Health Risk Conflicting classifications of pathogenicity —
RS568899945 XYLT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, XYLT1-related disorder
RS568902441 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS568913937 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS568921640 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS568924674 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS568924861 STRA6 Health Risk Conflicting classifications of pathogenicity Matthew-Wood syndrome, Matthew-Wood syndrome
RS568925019 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS568930062 PDE6C Health Risk Conflicting classifications of pathogenicity PDE6C-related disorder, PDE6C-related disorder
RS568936247 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS568942029 TONSL Health Risk Pathogenic/Likely pathogenic Sponastrime dysplasia, TONSL-related disorder
RS568949451 SEMA4A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 10, Retinitis pigmentosa
RS568950079 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS568952207 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS568958746 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Donnai-Barrow syndrome
RS568959118 GRIP1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, Fraser syndrome 3
RS568964531 HR Health Risk Conflicting classifications of pathogenicity —
RS568969576 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS568980956 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS568986390 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS569003242 TTN Health Risk Conflicting classifications of pathogenicity —
RS56900494 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS569024726 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS569032124 USH1G Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1G, Usher syndrome type 1G
RS569040282 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Inborn genetic diseases
RS569060938 COX6B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS569061665 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS569071678 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS569086883 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS569088856 PJVK Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS569112173 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2, Usher syndrome type 2
RS569119560 IARS1 Health Risk Conflicting classifications of pathogenicity Growth retardation, intellectual developmental disorder
RS56912727 SEMA6A Health Risk Conflicting classifications of pathogenicity —
RS569127795 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS569129411 TMEM70 Health Risk Likely pathogenic —
RS569131932 SLC26A1 Health Risk Conflicting classifications of pathogenicity Hypersulfaturia, Nephrolithiasis susceptibility caused by SLC26A1
RS569152308 FBN1 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 1, isolated
RS569159249 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS569172957 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS569180524 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, CBL-related disorder
RS569180795 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS569192835 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome, HPS1-related disorder
RS569193097 GRXCR1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS569195112 SCNN1A Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 2, Pseudohypoaldosteronism
RS569199683 EXT2 Health Risk Pathogenic Exostoses, multiple
RS569203312 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS569220214 MLC1 Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS569222899 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS569225834 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS56922686 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex 1A, generalized severe
RS569240271 DNAJC12 Health Risk Pathogenic/Likely pathogenic Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
RS569241534 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS569242465 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS569254423 LHX3 Health Risk Conflicting classifications of pathogenicity Non-acquired combined pituitary hormone deficiency with spine abnormalities, Combined pituitary hormone deficiencies
RS569260441 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS569268772 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS569274233 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS569286722 TBCD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS569293775 MYO7A Health Risk Conflicting classifications of pathogenicity MYO7A-related disorder, MYO7A-related disorder
RS569297468 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS569301210 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, TRPM4-related disorder
RS569302875 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS56930579 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS569306063 UNC45A Health Risk Conflicting classifications of pathogenicity UNC45A-related disorder, Inborn genetic diseases
RS569310979 QDPR Health Risk Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS569311945 RAB18 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 3, Warburg micro syndrome 3
RS569323391 KIF7 Health Risk Pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS569342451 LTBP3 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases
RS569343097 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Gordon syndrome
RS569343105 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS569346627 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS569351854 PCNT Health Risk Conflicting classifications of pathogenicity —
RS569356297 ZFPM2 Health Risk Conflicting classifications of pathogenicity Diaphragmatic hernia 3, 46
RS569356622 TAP2 Health Risk Conflicting classifications of pathogenicity MHC class I deficiency, MHC class I deficiency
RS569364202 NPHP4 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 4, Nephronophthisis
RS569372725 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS569375203 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS569378409 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS569379713 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS569386009 PIGT Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 3, Inborn genetic diseases
RS569392655 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS569395274 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS569406301 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Paroxysmal extreme pain disorder
RS569422992 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS569425024 ZFHX3 Health Risk Conflicting classifications of pathogenicity —
RS569428035 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS569428131 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Malignant tumor of breast
RS569432039 TPP1 Health Risk Conflicting classifications of pathogenicity —
RS569444237 COX10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
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