rs121912707, 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 0.925 0.040 5 126552059 missense variant C/G snv 3.6E-04 2.4E-04 0.820 1.000 12 2006 2019
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.040 5 126552059 missense variant C/G snv 3.6E-04 2.4E-04 0.700 1.000 8 2006 2017
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.925 0.040 5 126552059 missense variant C/G snv 3.6E-04 2.4E-04 0.010 1.000 1 2018 2018