rs760014795, TTPA

N. diseases: 1
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.
Ataxia with vitamin E deficiency
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
32 1.000 0.120 8 63086003 frameshift variant G/- delins 4.8E-05 1.4E-05 0.700 0