Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398123467
rs398123467
PLP1 ; RAB9B
2 0.925 0.120 X 103789373 missense variant G/C snv 0.700 1.000 20 1989 2000