rs121917851, TTPA

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.
Ataxia with vitamin E deficiency
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
32 0.925 0.120 8 63066056 stop gained G/A snv 2.4E-05 3.5E-05 0.700 1.000 7 1998 2015
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
CUI: C4016662
Disease: ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
5 0.925 0.120 8 63066056 stop gained G/A snv 2.4E-05 3.5E-05 0.700 0