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
RS72555362 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS72555363 GLB1 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS72555364 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS72555365 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS72555366 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis
RS72555367 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS72555368 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS72555369 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS72555370 GLB1 Health Risk Likely pathogenic GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
RS72555371 GLB1 Health Risk Likely pathogenic GM1-gangliosidosis, type I
RS72555372 GLB1 Health Risk Pathogenic GM1-gangliosidosis, type I
RS72555373 GLB1 Health Risk Likely pathogenic GM1-gangliosidosis, type I
RS72555374 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS72555376 LRP5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS72555390 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS72555391 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, Mucopolysaccharidosis
RS72555392 GLB1 Health Risk Conflicting classifications of pathogenicity Infantile GM1 gangliosidosis, GM1-gangliosidosis
RS72555393 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis type 3, Inborn genetic diseases
RS72555509 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Clear cell carcinoma of kidney
RS72556251 OTC Health Risk Pathogenic —
RS72556252 OTC Health Risk Pathogenic —
RS72556253 OTC Health Risk Pathogenic —
RS72556254 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556255 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556256 OTC Health Risk Pathogenic —
RS72556257 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556259 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556260 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556261 OTC Health Risk Pathogenic —
RS72556262 OTC Health Risk Pathogenic —
RS72556263 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556264 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556266 OTC Health Risk Pathogenic —
RS72556267 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556269 OTC Health Risk Pathogenic —
RS72556270 OTC Health Risk Pathogenic —
RS72556271 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556272 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556274 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556275 OTC Health Risk Pathogenic —
RS72556276 OTC Health Risk Pathogenic —
RS72556277 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556278 OTC Health Risk Pathogenic/Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556279 OTC Health Risk Pathogenic —
RS72556280 OTC Health Risk Pathogenic —
RS72556281 OTC Health Risk Pathogenic —
RS72556282 OTC Health Risk Pathogenic —
RS72556283 OTC Health Risk Pathogenic —
RS72556284 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556285 OTC Health Risk Pathogenic —
RS72556286 OTC Health Risk Pathogenic —
RS72556287 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556288 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556289 OTC Health Risk Pathogenic —
RS72556290 OTC Health Risk Pathogenic —
RS72556291 OTC Health Risk Pathogenic —
RS72556292 OTC Health Risk Pathogenic —
RS72556293 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556294 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556295 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, OTC-related disorder
RS72556296 OTC Health Risk Pathogenic —
RS72556298 OTC Health Risk Pathogenic —
RS72556299 OTC Health Risk Pathogenic —
RS72556300 OTC Health Risk Pathogenic —
RS72556301 OTC Health Risk Pathogenic/Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72556302 OTC Health Risk Pathogenic —
RS72556369 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS72556376 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS72556553 ATRIP Health Risk Conflicting classifications of pathogenicity —
RS72556554 TREX1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 1, Systemic lupus erythematosus
RS72556555 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS72557906 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS72557928 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS72557941 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS72557946 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, POR-related disorder
RS72557949 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Inborn genetic diseases
RS72557950 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, POR-related disorder
RS72557951 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS72557952 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS72557954 POR Health Risk Likely pathogenic Congenital adrenal hyperplasia, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS72557956 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS72557961 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS72558026 SCN1B Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, Brugada syndrome 5
RS72558181 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS72558191 CYP2C9 Health Risk Pathogenic Warfarin response, Warfarin response
RS72558196 CYP2C8 Health Risk Pathogenic DRUG METABOLISM, ALTERED
RS72558199 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, ABCC2-related disorder
RS72558200 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, ABCC2-related disorder
RS72558201 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS72558202 ABCC2 Health Risk Likely pathogenic Dubin-Johnson syndrome, ABCC2-related disorder
RS72558403 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558404 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558405 OTC Health Risk Pathogenic —
RS72558406 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, OTC-related disorder
RS72558407 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558408 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558409 OTC Health Risk Pathogenic —
RS72558410 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558411 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558412 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
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