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
RS2134450136 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2134452962 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2134453079 BEST1 Health Risk Pathogenic —
RS2134453127 BEST1 Health Risk Pathogenic/Likely pathogenic BEST1-related disorder, BEST1-related disorder
RS2134453263 BEST1 Health Risk Pathogenic —
RS2134453358 BEST1 Health Risk Pathogenic —
RS2134453407 BEST1 Health Risk Likely pathogenic —
RS2134453498 BEST1 Health Risk Pathogenic —
RS2134453733 BEST1 Health Risk Likely pathogenic —
RS2134454279 TCIRG1 Health Risk Pathogenic TCIRG1-related disorder, Autosomal recessive osteopetrosis 1
RS2134454644 TCIRG1 Health Risk Pathogenic —
RS2134455003 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS2134455141 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS2134455159 TCIRG1 Health Risk Pathogenic —
RS2134455254 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS2134455711 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS2134455719 TCIRG1 Health Risk Likely pathogenic —
RS2134456106 TCIRG1 Health Risk Pathogenic —
RS2134456127 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS2134456170 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2134456707 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2134456729 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2134456773 FANCC Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2134456820 FANCC Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2134459706 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS2134460074 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2134460391 TCIRG1 Health Risk Pathogenic —
RS2134460930 TCIRG1 Health Risk Pathogenic —
RS2134462513 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS2134462662 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2134462764 DNHD1 Health Risk Likely pathogenic Spermatogenic failure 65, Spermatogenic failure 65
RS2134462969 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS2134464569 TCIRG1 Health Risk Pathogenic —
RS2134465013 TCIRG1 Health Risk Pathogenic —
RS2134465433 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2134466412 TCIRG1 Health Risk Pathogenic —
RS2134469325 BEST1 Health Risk Pathogenic —
RS2134470006 BEST1 Health Risk Likely pathogenic —
RS2134476814 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2134476898 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2134478524 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2134479545 SF3B2 Health Risk Pathogenic Craniofacial microsomia 1, Craniofacial microsomia 1
RS2134489809 CEP55 Health Risk Pathogenic —
RS2134490704 CEP55 Health Risk Likely pathogenic Abnormality of prenatal development or birth, Abnormality of prenatal development or birth
RS2134504108 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS2134504868 NT5C2 Health Risk Pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS2134505106 ZNF408 Health Risk Likely pathogenic —
RS2134516943 MMP13 Health Risk Pathogenic —
RS2134518071 CHKA Health Risk Likely pathogenic Microcephaly, Severe intellectual disability
RS2134523032 MMP13 Health Risk Pathogenic —
RS2134523525 MMP13 Health Risk Likely pathogenic —
RS2134532862 F2 Health Risk Likely pathogenic Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS2134533215 F2 Health Risk Likely pathogenic Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS2134537035 F2 Health Risk Likely pathogenic Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS2134546063 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2134548133 FANCC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia
RS2134549944 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2134550524 FANCC Health Risk Pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS2134550787 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2134551203 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2134557917 COL13A1 Health Risk Likely pathogenic —
RS2134563935 COL17A1 Health Risk Pathogenic Epidermolysis bullosa, junctional 4
RS2134567157 COL17A1 Health Risk Likely pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS2134572801 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2134574071 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2134575722 RBP4 Health Risk Likely pathogenic —
RS2134581672 COL17A1 Health Risk Pathogenic Epidermolysis bullosa, junctional 4
RS2134582202 PAX6 Health Risk Pathogenic —
RS2134583801 COL17A1 Health Risk Likely pathogenic —
RS2134585922 COL17A1 Health Risk Likely pathogenic —
RS2134588361 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS2134590423 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2134590532 TPP1 Health Risk Pathogenic —
RS2134590604 COL17A1 Health Risk Likely pathogenic See cases, See cases
RS2134590841 TPP1 Health Risk Pathogenic —
RS2134591509 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2134591515 TPP1 Health Risk Likely pathogenic —
RS2134591716 TPP1 Health Risk Pathogenic —
RS2134591764 TPP1 Health Risk Pathogenic —
RS2134591803 TPP1 Health Risk Pathogenic —
RS2134592949 TPP1 Health Risk Likely pathogenic —
RS2134593910 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2134594286 TPP1 Health Risk Likely pathogenic —
RS2134594449 TPP1 Health Risk Pathogenic —
RS2134595571 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS2134595625 TPP1 Health Risk Pathogenic —
RS2134595789 TPP1 Health Risk Pathogenic —
RS2134595824 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2134597918 TPP1 Health Risk Pathogenic —
RS2134598107 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2134598287 SLC35C1 Health Risk Likely pathogenic Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
RS2134598310 SLC35C1 Health Risk Pathogenic Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
RS2134598751 TPP1 Health Risk Pathogenic —
RS2134599310 TPP1 Health Risk Pathogenic —
RS2134609369 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2134609949 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2134610444 EBF3 Health Risk Pathogenic —
RS2134610480 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS2134610777 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS2134610864 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
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