rs121912708, ALDH7A1

N. diseases: 3
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.
EPILEPSY, PYRIDOXINE-DEPENDENT
CUI: C1849508
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT
26 1.000 0.040 5 126583997 stop gained G/A;C snv 6.0E-05; 4.0E-06 0.700 1.000 4 2006 2015
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 1.000 0.040 5 126583997 stop gained G/A;C snv 6.0E-05; 4.0E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 0.040 5 126583997 stop gained G/A;C snv 6.0E-05; 4.0E-06 0.700 0