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: rs763993653
rs763993653
CHKB ; CPT1B ; CHKB-CPT1B
1 1.000 0.120 22 50579808 missense variant A/T snv 4.0E-06 0.010 1.000 1 2016 2016