PEX26, peroxisomal biogenesis factor 26, 55670

N. diseases: 132; N. variants: 13
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: rs61752129
rs61752129
0.776 0.240 22 18078405 frameshift variant C/-;CC delins
CUI: C0677600
Disease: Inspiratory stridor
Inspiratory stridor
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.700 0