rs886040963, 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 63073089 splice acceptor variant C/A;G;T snv 8.1E-06; 4.0E-06 0.700 1.000 2 1998 2014