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
RS72549373 CYP1B1 Health Risk Pathogenic/Likely pathogenic Congenital glaucoma, Congenital glaucoma
RS72549376 CYP1B1 Health Risk Pathogenic Congenital glaucoma, Anterior segment dysgenesis
RS72549379 CYP1B1 Health Risk Pathogenic Primary congenital glaucoma, Congenital glaucoma
RS72549380 CYP1B1 Health Risk Pathogenic Congenital glaucoma, Glaucoma 3A
RS72549381 CYP1B1 Health Risk Pathogenic Congenital glaucoma, Anterior segment dysgenesis 6
RS72549382 CYP1B1 Health Risk Conflicting classifications of pathogenicity Glaucoma 3A, Congenital glaucoma
RS72549383 CYP1B1 Health Risk Conflicting classifications of pathogenicity Congenital glaucoma, Irido-corneo-trabecular dysgenesis
RS72549387 CYP1B1 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Glaucoma 3A
RS72549388 CYP1B1 Health Risk Pathogenic Congenital glaucoma, Anterior segment dysgenesis 6
RS72549389 CYP1B1 Health Risk Pathogenic Anterior segment dysgenesis 6, Primary congenital glaucoma
RS72549394 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis type 2
RS72549395 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS72549396 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS72549397 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS72549398 ABCB11 Health Risk Pathogenic Abnormal liver function tests during pregnancy, Pruritus
RS72549399 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS72549401 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS72549402 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS72549405 HYCC1 Health Risk Pathogenic Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS72549406 HYCC1 Health Risk Pathogenic Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS72549407 HYCC1 Health Risk Pathogenic Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS72549410 SCN5A Health Risk Pathogenic Congenital long QT syndrome, Long QT syndrome
RS72549411 SCN5A Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1E, Progressive familial heart block
RS72549413 SCN5A Health Risk Likely pathogenic Brugada syndrome 1, Brugada syndrome 1
RS72549417 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy
RS72549418 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS72549419 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS72550218 KCNE2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS72550822 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS72550866 MASP2 Health Risk Conflicting classifications of pathogenicity MASP2-related disorder, MASP2-related disorder
RS72550870 MASP2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to MASP-2 deficiency, MASP2-related disorder
RS72550890 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS72551306 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS72551312 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, CYP27A1-related disorder
RS72551313 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS72551314 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS72551315 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS72551316 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS72551317 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS72551318 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS72551319 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS72551320 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS72551321 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS72551322 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS72551323 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, CYP27A1-related disorder
RS72551340 UGT1A1 Health Risk Pathogenic Crigler-Najjar syndrome, Crigler-Najjar syndrome
RS72551341 UGT1A1 Health Risk Conflicting classifications of pathogenicity; other Crigler-Najjar syndrome, type II
RS72551343 UGT1A1 Health Risk Pathogenic/Likely pathogenic Crigler-Najjar syndrome, Inborn genetic diseases
RS72551345 UGT1A1 Health Risk Pathogenic Crigler-Najjar syndrome, type II
RS72551348 covers 10 genes, none of which curated to show dosage sensitivity Health Risk Likely pathogenic Crigler-Najjar syndrome, type II
RS72551349 UGT1A1 Health Risk Pathogenic/Likely pathogenic Crigler-Najjar syndrome type 1, Gilbert syndrome
RS72551350 UGT1A1 Health Risk Pathogenic —
RS72551351 covers 10 genes, none of which curated to show dosage sensitivity Health Risk Likely pathogenic Crigler-Najjar syndrome type 1, Gilbert syndrome
RS72551353 UGT1A1 Health Risk Pathogenic Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome
RS72551360 UGT1A1 Health Risk Conflicting classifications of pathogenicity —
RS72551362 PPARG Health Risk Pathogenic PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy
RS72551363 PPARG Health Risk Pathogenic PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy
RS72551364 PPARG Health Risk Pathogenic/Likely pathogenic PPARG-related familial partial lipodystrophy, PPARG-related familial partial lipodystrophy
RS72552027 SCN1B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Generalized epilepsy with febrile seizures plus
RS72552028 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Cardiovascular phenotype
RS72552029 KCNJ2 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Andersen Tawil syndrome
RS72552053 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS72552255 ATP7B Health Risk Pathogenic Wilson disease, Inborn genetic diseases
RS72552258 ALDH6A1 Health Risk Pathogenic Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
RS72552259 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Epileptic encephalopathy
RS72552271 SLC16A1 Health Risk Conflicting classifications of pathogenicity Metabolic myopathy due to lactate transporter defect, Metabolic myopathy due to lactate transporter defect
RS72552272 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS72552281 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS72552282 ALDH5A1 Health Risk Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS72552283 ALDH5A1 Health Risk Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS72552284 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS72552285 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS72552291 GPD1L Health Risk Conflicting classifications of pathogenicity Brugada syndrome 2, Death in infancy
RS72552292 GPD1L Health Risk Conflicting classifications of pathogenicity Brugada syndrome 2, Cardiovascular phenotype
RS72552293 GPD1L Health Risk Conflicting classifications of pathogenicity Brugada syndrome 2, SUDDEN INFANT DEATH SYNDROME
RS72552294 GPD1L Health Risk Conflicting classifications of pathogenicity Brugada syndrome 2, Brugada syndrome
RS72552295 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72552296 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72552297 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72552298 OTC Health Risk Pathogenic —
RS72552299 OTC Health Risk Pathogenic —
RS72552300 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72552301 OTC Health Risk Pathogenic —
RS72552302 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72552322 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS72552323 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS72552377 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS72552401 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
RS72552713 ABCG2 Health Risk association BLOOD GROUP, JUNIOR SYSTEM
RS72552722 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, SLC22A5-related disorder
RS72552723 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS72552724 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, SLC22A5-related disorder
RS72552725 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS72552726 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Carnitine deficiency
RS72552727 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS72552728 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS72552729 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS72552730 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS72552731 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS72552732 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Inborn genetic diseases
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