rs1569243565, PLA2G6

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.
Infantile Neuroaxonal Dystrophy
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
25 1.000 0.040 22 38115630 frameshift variant A/- delins 0.700 0