PEX13, peroxisomal biogenesis factor 13, 5194

N. diseases: 132; N. variants: 7
Disease: PEROXISOME BIOGENESIS DISORDER 11B ×
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: rs61752115
rs61752115 		0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.800 1.000 2 1999 1999
dbSNP: rs61752113
rs61752113 		1.000 2 61048495 missense variant T/G snv
CUI: C3554001
Disease: PEROXISOME BIOGENESIS DISORDER 11B
PEROXISOME BIOGENESIS DISORDER 11B 		0.700 0