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: rs61752137
rs61752137
PEX5
1 1.000 0.080 12 7208554 stop gained C/T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs61752138
rs61752138
PEX5
3 0.882 0.120 12 7209700 missense variant T/G snv 0.700 0