PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Disease: Dysmorphic features ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs864622194
rs864622194 		0.925 0.080 X 103776997 start lost T/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1989 2016