rs137852937, ALDH4A1

N. diseases: 2
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.
Hyperprolinemia type 2
CUI: C2931835
Disease: Hyperprolinemia type 2
5 0.925 0.080 1 18877498 missense variant G/A;C snv 9.6E-05; 4.2E-06 0.800 1.000 2 1998 2012
Hyperprolinemia
CUI: C0268528
Disease: Hyperprolinemia
3 0.925 0.080 1 18877498 missense variant G/A;C snv 9.6E-05; 4.2E-06 0.010 1.000 1 2012 2012