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
RS2494484801 WT1 Health Risk Pathogenic Drash syndrome, Wilms tumor 1
RS2494486169 WT1 Health Risk Pathogenic Drash syndrome, Wilms tumor 1
RS2494488708 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS2494494292 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494497146 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494498245 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494498363 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494500513 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Hyperornithinemia
RS2494500603 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494501124 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494502096 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494503071 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494503596 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2494506149 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494507745 HPS5 Health Risk Pathogenic —
RS2494507974 HPS5 Health Risk Likely pathogenic —
RS2494512458 PAX5 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS2494512979 PAX5 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS2494513770 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2494516617 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494516804 NT5C2 Health Risk Pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS2494516860 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494516881 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494522736 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494523338 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494523429 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494525612 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494525637 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS2494525720 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494526165 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494528886 ACTA2 Health Risk Pathogenic Aortic aneurysm, familial thoracic 6
RS2494532805 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494533554 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494535401 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494541474 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Neuromuscular disease
RS2494541533 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Gaucher disease due to saposin C deficiency
RS2494541782 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2494556210 PAX5 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS2494585590 HPS5 Health Risk Pathogenic —
RS2494594074 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS2494599240 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2494600372 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2494602199 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2494605090 PCDH15 Health Risk Pathogenic —
RS2494605326 PCDH15 Health Risk Pathogenic —
RS2494611829 LDHA Health Risk Likely pathogenic Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
RS2494620013 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2494629397 CARS1 Health Risk Pathogenic Microcephaly, developmental delay
RS2494631340 EPS8L2 Health Risk Pathogenic —
RS2494642835 PCDH15 Health Risk Pathogenic —
RS2494643428 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2494644051 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2494644442 PCDH15 Health Risk Pathogenic —
RS2494644980 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2494645313 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2494678682 HPS5 Health Risk Pathogenic —
RS2494681209 HPS5 Health Risk Pathogenic —
RS2494683377 HPS5 Health Risk Pathogenic —
RS2494686109 HPS5 Health Risk Pathogenic —
RS2494703615 PDHX Health Risk Likely pathogenic —
RS2494706450 HPS5 Health Risk Pathogenic —
RS2494707071 HPS5 Health Risk Pathogenic —
RS2494708669 HPS5 Health Risk Pathogenic —
RS2494708862 PDHX Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS2494716427 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS2494716906 PAX6 Health Risk Pathogenic —
RS2494721611 PDHX Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS2494724434 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS2494726862 CCDC34 Health Risk Pathogenic Spermatogenic failure 76, Spermatogenic failure 76
RS2494728791 PDHX Health Risk Pathogenic —
RS2494732058 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS2494732361 WT1 Health Risk Likely pathogenic Nephrotic syndrome, type 4
RS2494732943 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS2494735922 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2494736104 HPS5 Health Risk Pathogenic —
RS2494736729 HPS5 Health Risk Pathogenic —
RS2494739987 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2494744424 PDHX Health Risk Likely pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS2494749848 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494750272 RAG1 Health Risk Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency due to partial RAG1 deficiency
RS2494750358 RAG1 Health Risk Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency due to partial RAG1 deficiency
RS2494750488 RAG1 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2494750713 RAG1 Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS2494751448 RAG1 Health Risk Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency due to partial RAG1 deficiency
RS2494751587 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494751635 RAG1 Health Risk Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency due to partial RAG1 deficiency
RS2494752082 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494752085 RAG1 Health Risk Likely pathogenic Histiocytic medullary reticulosis, Combined immunodeficiency due to partial RAG1 deficiency
RS2494752351 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Severe combined immunodeficiency
RS2494752916 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Severe combined immunodeficiency
RS2494753295 RAG1 Health Risk Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency due to partial RAG1 deficiency
RS2494753892 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494754161 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2494754517 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494754724 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494754990 RAG1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to partial RAG1 deficiency, Histiocytic medullary reticulosis
RS2494755383 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2494756760 RAG1 Health Risk Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency due to partial RAG1 deficiency
RS2494757178 RAG1 Health Risk Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency due to partial RAG1 deficiency
RS2494757326 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
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