rs132630280, PLP1;RAB9B

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.
Pelizaeus-Merzbacher Disease
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
30 1.000 0.120 X 103787811 missense variant C/G;T snv 0.800 1.000 20 1989 2000