PQBP1, polyglutamine binding protein 1, 10084

N. diseases: 118; N. variants: 7
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: rs606231193
rs606231193 		0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 1962 2011