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: rs2229291
rs2229291
CPT2
8 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.020 1.000 2 2012 2014
dbSNP: rs1555745989
rs1555745989
ATP5F1D
3 0.925 0.040 19 1244118 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.010 1.000 1 2018 2018