Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs132630293
rs132630293
PLP1 ; RAB9B
0.925 0.120 X 103789361 missense variant C/T snv
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		0.020 1.000 2 2002 2014