PEX14, peroxisomal biogenesis factor 14, 5195

N. diseases: 133; N. variants: 19
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: rs6687430
rs6687430
1 10573188 intron variant G/A snv 0.48
CUI: C0018498
Disease: Hair Color
Hair Color
0.700 1.000 1 2018 2018