rs1554696650, ELP1

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.
Dysautonomia, Familial
CUI: C0013364
Disease: Dysautonomia, Familial
46 1.000 0.080 9 108901633 frameshift variant GT/- delins 0.700 0