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
RS2482893792 SKIC2 Health Risk Pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS2482901097 SKIC2 Health Risk Likely pathogenic —
RS2482907794 SKIC2 Health Risk Likely pathogenic —
RS2482907806 SKIC2 Health Risk Likely pathogenic —
RS2482913862 SKIC2 Health Risk Pathogenic SKIC2-related disorder, Trichohepatoenteric syndrome
RS2482914494 SKIC2 Health Risk Pathogenic —
RS2482921524 SKIC2 Health Risk Pathogenic —
RS2482923446 SKIC2 Health Risk Likely pathogenic —
RS2482925700 RARS2 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2482926092 SKIC2 Health Risk Pathogenic —
RS2482927479 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS2482927788 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2482941580 SKIC2 Health Risk Pathogenic —
RS2482941811 SKIC2 Health Risk Likely pathogenic —
RS2482941903 SKIC2 Health Risk Likely pathogenic —
RS2482946278 SKIC2 Health Risk Pathogenic —
RS2482948092 SKIC2 Health Risk Pathogenic —
RS2482951128 LTBP1 Health Risk Likely pathogenic —
RS2482951342 SKIC2 Health Risk Likely pathogenic —
RS2482962077 SKIC2 Health Risk Pathogenic —
RS2482962245 SKIC2 Health Risk Pathogenic —
RS2482963880 SKIC2 Health Risk Pathogenic —
RS2482964196 SKIC2 Health Risk Pathogenic —
RS2482974419 SKIC2 Health Risk Likely pathogenic —
RS2482977604 SKIC2 Health Risk Pathogenic —
RS2482978171 SKIC2 Health Risk Pathogenic —
RS2482980547 SKIC2 Health Risk Pathogenic —
RS2482986290 SKIC2 Health Risk Likely pathogenic —
RS2482987023 GABBR1 Health Risk Likely pathogenic Delayed speech and language development, Intellectual disability
RS2482987424 SKIC2 Health Risk Pathogenic —
RS2482991939 SKIC2 Health Risk Pathogenic —
RS2482992258 SKIC2 Health Risk Likely pathogenic —
RS2482996768 SKIC2 Health Risk Pathogenic —
RS2482998760 SKIC2 Health Risk Likely pathogenic SKIC2-related disorder, SKIC2-related disorder
RS2482998785 SKIC2 Health Risk Pathogenic —
RS2483001580 SKIC2 Health Risk Pathogenic —
RS2483002301 SKIC2 Health Risk Pathogenic —
RS2483002672 SKIC2 Health Risk Likely pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS2483004287 SKIC2 Health Risk Pathogenic —
RS2483004524 SKIC2 Health Risk Pathogenic —
RS2483014149 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483015903 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483018539 TAP2 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS2483030686 SMOC2 Health Risk Pathogenic —
RS2483031868 TAP2 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS2483041289 GRIK2 Health Risk Likely pathogenic Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
RS2483045582 TAP2 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS2483057361 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2483057578 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS2483060451 RARS2 Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS2483063381 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483071538 HACE1 Health Risk Likely pathogenic —
RS2483080517 RARS2 Health Risk Pathogenic —
RS2483083592 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483085708 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483086717 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483087076 PSMB8 Health Risk Pathogenic Proteosome-associated autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
RS2483089065 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2483090982 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483093313 RARS2 Health Risk Pathogenic —
RS2483095040 PSMB8 Health Risk Likely pathogenic Proteosome-associated autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
RS2483096056 PSMB8 Health Risk Pathogenic Proteosome-associated autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
RS2483121020 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS2483139594 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS2483139752 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS2483142817 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS2483143302 HACE1 Health Risk Likely pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
RS2483155390 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483156696 RARS2 Health Risk Pathogenic —
RS2483160388 RARS2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2483162654 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS2483164110 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483164755 PRKN Health Risk Pathogenic —
RS2483164857 PRKN Health Risk Pathogenic —
RS2483165715 RARS2 Health Risk Likely pathogenic —
RS2483168330 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS2483175972 COL9A1 Health Risk Pathogenic —
RS2483176844 COL9A1 Health Risk Likely pathogenic —
RS2483177125 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS2483177661 ADGRG6 Health Risk Likely pathogenic Lethal congenital contracture syndrome 9, Lethal congenital contracture syndrome 9
RS2483185391 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS2483189043 RARS2 Health Risk Likely pathogenic —
RS2483190231 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483190241 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS2483190622 COL9A1 Health Risk Likely pathogenic —
RS2483206286 PNLDC1 Health Risk Likely pathogenic Spermatogenic failure 57, Spermatogenic failure 57
RS2483216049 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2483216603 RNASET2 Health Risk Pathogenic Cystic leukoencephalopathy without megalencephaly, Cystic leukoencephalopathy without megalencephaly
RS2483230018 LATS1 Health Risk Pathogenic Myoepithelial tumor, Myoepithelial tumor
RS2483237716 COL9A1 Health Risk Likely pathogenic —
RS2483242918 COL9A1 Health Risk Likely pathogenic —
RS2483243726 PRKAR1B Health Risk Likely pathogenic Marbach-Schaaf neurodevelopmental syndrome, Marbach-Schaaf neurodevelopmental syndrome
RS2483248331 COL9A1 Health Risk Pathogenic —
RS2483253242 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483256407 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS2483264736 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2483267737 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2483267924 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2483268122 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS2483298866 GABBR1 Health Risk Likely pathogenic Atypical behavior, Global developmental delay
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