rs132630286, RAB9B;PLP1

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.
Pelizaeus-Merzbacher Disease
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
30 0.925 0.120 X 103788475 missense variant G/T snv 0.700 1.000 20 1989 2000
PELIZAEUS-MERZBACHER DISEASE, CONNATAL
CUI: C4016483
Disease: PELIZAEUS-MERZBACHER DISEASE, CONNATAL
2 0.925 0.120 X 103788475 missense variant G/T snv 0.700 0