PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
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: rs267608247
rs267608247 		1.000 6 42965078 missense variant C/A;G;T snv 4.2E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 1996 2016
dbSNP: rs61753219
rs61753219 		0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 8 1996 2016