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: rs74315295
rs74315295
CPT2
5 0.851 0.200 1 53210822 missense variant T/A snv 2.4E-05 1.4E-05 0.730 1.000 5 1996 2017
dbSNP: rs515726174
rs515726174
CPT2
2 0.925 0.160 1 53210315 missense variant T/C snv 0.700 0
dbSNP: rs74315297
rs74315297
CPT2
2 0.925 0.160 1 53211016 missense variant T/C snv 2.1E-04 1.0E-04 0.700 0
dbSNP: rs2229291
rs2229291
CPT2
8 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.010 1.000 1 2015 2015