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
RS1653178441 DARS2 Health Risk Pathogenic —
RS1653192107 SZT2 Health Risk Pathogenic —
RS1653241392 ATP1A1 Health Risk Likely pathogenic Charcot-Marie-tooth disease, axonal
RS1653248260 YARS1 Health Risk Pathogenic/Likely pathogenic Retinal degeneration, Hepatic steatosis
RS1653256261 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1653295871 CACNA1E Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 69
RS1653321651 SZT2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 18
RS1653324348 HMGCS2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1653326843 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS1653335301 NECTIN4 Health Risk Pathogenic Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal dysplasia-syndactyly syndrome 1
RS1653396401 POGZ Health Risk Pathogenic —
RS1653397845 POGZ Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1653397925 SZT2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 18
RS1653448255 ATP1A1 Health Risk Likely pathogenic Charcot-Marie-tooth disease, axonal
RS1653455584 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1653497680 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1653548589 SEMA4A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1653560615 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1653579916 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1653612721 SPTA1 Health Risk Pathogenic —
RS1653647344 POGZ Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1653665864 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1653728836 SPTA1 Health Risk Likely pathogenic —
RS1653759340 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1653766307 POGZ Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1653770239 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1653807656 POGZ Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1653809027 POGZ Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1653847504 SZT2 Health Risk Pathogenic —
RS1653872984 SPTA1 Health Risk Likely pathogenic SPTA1-related disorder, SPTA1-related disorder
RS1653916498 SZT2 Health Risk Pathogenic —
RS1653925536 SZT2 Health Risk Pathogenic —
RS1653935181 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1653935585 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1653938652 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1654007685 SZT2 Health Risk Pathogenic —
RS1654011638 POGZ Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1654042476 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1654043546 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS1654056152 POGZ Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1654079662 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1654079940 CTSK Health Risk Pathogenic —
RS1654081712 POGZ Health Risk Pathogenic Inborn genetic diseases, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1654082906 CTSK Health Risk Pathogenic —
RS1654084368 SZT2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 18
RS1654085401 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1654090648 CTSK Health Risk Pathogenic —
RS1654101631 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1654102585 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS1654108256 CASQ1 Health Risk Conflicting classifications of pathogenicity Myopathy with tubular aggregates, Myopathy with tubular aggregates
RS1654199242 CASQ2 Health Risk Likely pathogenic —
RS1654250819 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1654497416 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1654576202 SZT2 Health Risk Pathogenic —
RS1654652414 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1654687449 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1654690647 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1654695322 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1654701324 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1654707104 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS1654707272 POGZ Health Risk Pathogenic —
RS1654721399 CRB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1654722291 CRB1 Health Risk Pathogenic —
RS1654722914 CRB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 12
RS1654723466 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1654731473 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS1654732346 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1654782224 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1654812809 SPTA1 Health Risk Pathogenic —
RS1654817532 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1654818141 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1654854600 SZT2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 18
RS1654858951 SZT2 Health Risk Pathogenic —
RS1654902207 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1654908371 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1654912428 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1654921932 CD55 Health Risk Pathogenic —
RS1654941272 PTPRC Health Risk Pathogenic/Likely pathogenic Immunodeficiency 104, Immunodeficiency 105
RS1654968072 PIGK Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
RS1655006399 CD46 Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1655023196 PRRX1 Health Risk Likely pathogenic Agnathia-otocephaly complex, Agnathia-otocephaly complex
RS1655047525 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1655053800 KDM5B Health Risk Likely pathogenic —
RS1655058321 KDM5B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1655077098 NEK2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1655079234 JAK1 Health Risk Likely pathogenic Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome
RS1655094479 SPTA1 Health Risk Likely pathogenic —
RS1655113495 TBX15 Health Risk Pathogenic —
RS1655117230 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1655117886 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1655124681 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1655125488 SZT2 Health Risk Likely pathogenic —
RS1655136943 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1655170724 SZT2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 18
RS1655173102 JAK1 Health Risk Pathogenic Autoinflammation, immune dysregulation
RS1655201565 GLMN Health Risk Likely pathogenic Glomuvenous malformation, Glomuvenous malformation
RS1655263308 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1655275276 SZT2 Health Risk Pathogenic —
RS1655343130 SZT2 Health Risk Pathogenic —
RS1655379382 KDM5B Health Risk Likely pathogenic Intellectual disability, autosomal recessive 65
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