Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61752138
rs61752138
PEX5
3 0.882 0.120 12 7209700 missense variant T/G snv 0.800 1.000 2 1995 1999
dbSNP: rs1565673352
rs1565673352
PEX5
1 1.000 0.080 12 7191613 stop gained G/T snv 0.700 0