rs431905509, SLC25A1

N. diseases: 8
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Combined D-2- and L-2-hydroxyglutaric aciduria
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
14 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.800 0
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
61 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0