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: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs68026851
rs68026851
OTC
2 1.000 0.120 X 38401310 missense variant G/A;C snv 0.010 1.000 1 1998 1998
dbSNP: rs72554308
rs72554308
OTC
2 1.000 0.120 X 38367332 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs749495848
rs749495848
2 9 117713210 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2006 2006