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
RS1592408302 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS1592409631 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1592409633 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1592409736 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592409876 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592410003 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS1592410540 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1592410582 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592411896 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592412022 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592412131 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1592414464 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592415275 CNTN1 Health Risk Pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS1592415563 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592415625 PAX6 Health Risk Pathogenic —
RS1592415745 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592415868 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592415958 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592416305 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1592416453 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1592416538 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1592420967 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1592421398 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592421981 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1592422097 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1592422740 F2 Health Risk Likely pathogenic Prolonged prothrombin time, Prolonged prothrombin time
RS1592424894 LEMD3 Health Risk Pathogenic —
RS1592425446 LEMD3 Health Risk Pathogenic —
RS1592432969 PAX6 Health Risk Likely pathogenic —
RS1592433022 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1592433545 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592433606 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592433640 PAX6 Health Risk Likely pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1592434096 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592435423 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592435527 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592435632 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592435653 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1592464882 LEMD3 Health Risk Likely pathogenic Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
RS1592475699 STAT2 Health Risk Pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS1592490234 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1592491950 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1592492255 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1592493118 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1592495200 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1592496317 ITGA7 Health Risk Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1592513048 AAAS Health Risk Pathogenic/Likely pathogenic Glucocorticoid deficiency with achalasia, Germ cell tumor of testis
RS1592521438 RDH5 Health Risk Pathogenic Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS1592521712 RDH5 Health Risk Pathogenic Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS1592530126 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592530379 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592530521 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592531953 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592532084 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1592532169 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1592532561 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592532580 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1592542002 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1592542060 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592542273 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1592542343 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592542615 PAX6 Health Risk Pathogenic —
RS1592542705 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1592542942 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592543032 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592543499 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592543841 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592544327 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592544553 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592545392 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592545972 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1592546024 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592546120 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1592546273 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592546340 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592546566 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592546589 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592550848 CEP290 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1592562717 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1592562836 PAX6 Health Risk Pathogenic/Likely pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1592562910 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1592563047 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592563240 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1592563333 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592563428 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1592563502 PAX6 Health Risk Pathogenic —
RS1592563636 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1592563721 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1592564013 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592564157 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592564219 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592564313 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS1592564366 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1592564672 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1592564908 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1592574519 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1592582910 PTPRQ Health Risk Likely pathogenic —
RS1592602849 MDM2 Health Risk Likely pathogenic Lessel-kubisch syndrome, Accelerated tumor formation
RS1592610121 PAX6 Health Risk Pathogenic Congenital aniridia, Irido-corneo-trabecular dysgenesis
RS1592610205 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
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