Gene: OTC ×
Source: UNIPROT ×
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: rs72558408
rs72558408
OTC
1 0.925 0.160 X 38403681 missense variant C/T snv 0.700 1.000 20 1988 2002
dbSNP: rs66741318
rs66741318
OTC
1 1.000 0.120 X 38401332 missense variant G/C;T snv 0.810 1.000 21 1988 2017
dbSNP: rs67120076
rs67120076
OTC
1 1.000 0.120 X 38408752 missense variant C/G;T snv 0.810 1.000 21 1988 2017
dbSNP: rs67486158
rs67486158
OTC
1 1.000 0.120 X 38367361 stop gained G/A;T snv 4.9E-05 0.800 1.000 21 1988 2017
dbSNP: rs68026851
rs68026851
OTC
1 1.000 0.120 X 38401310 missense variant G/A;C snv 0.820 1.000 21 1988 2017
dbSNP: rs68031618
rs68031618
OTC
1 1.000 0.120 X 38352773 missense variant G/A;C snv 0.800 1.000 21 1988 2017
dbSNP: rs72554308
rs72554308
OTC
1 1.000 0.120 X 38367332 missense variant G/A snv 0.810 1.000 21 1988 2017
dbSNP: rs72554312
rs72554312
OTC
1 1.000 0.120 X 38367347 missense variant T/C snv 0.800 1.000 21 1988 2017
dbSNP: rs72554331
rs72554331
OTC
1 1.000 0.120 X 38369815 missense variant G/A snv 0.800 1.000 21 1988 2017
dbSNP: rs72554338
rs72554338
OTC
1 1.000 0.120 X 38369838 missense variant G/A snv 0.800 1.000 21 1988 2017
dbSNP: rs72554345
rs72554345
OTC
1 1.000 0.120 X 38369860 missense variant G/C snv 0.800 1.000 21 1988 2017
dbSNP: rs72554356
rs72554356
OTC
1 1.000 0.120 X 38381417 missense variant C/T snv 1.1E-05 0.700 1.000 21 1988 2017
dbSNP: rs72556260
rs72556260
OTC
1 1.000 0.120 X 38401306 missense variant G/C snv 0.800 1.000 21 1988 2017
dbSNP: rs72556271
rs72556271
OTC
1 1.000 0.120 X 38401370 missense variant A/G snv 0.800 1.000 21 1988 2017
dbSNP: rs72558412
rs72558412
OTC
1 1.000 0.120 X 38403694 missense variant T/G snv 0.800 1.000 21 1988 2017
dbSNP: rs72558417
rs72558417
OTC
1 1.000 0.120 X 38403703 missense variant C/G;T snv 6.0E-05 0.800 1.000 21 1988 2017
dbSNP: rs72558423
rs72558423
OTC
1 1.000 0.120 X 38403723 missense variant C/G snv 0.800 1.000 21 1988 2017
dbSNP: rs72558449
rs72558449
OTC
1 1.000 0.120 X 38408961 missense variant T/C snv 0.800 1.000 21 1988 2017
dbSNP: rs72558454
rs72558454
OTC
1 1.000 0.120 X 38408987 missense variant C/T snv 0.810 1.000 21 1988 2017
dbSNP: rs72558465
rs72558465
OTC
1 1.000 0.120 X 38411906 missense variant G/T snv 0.800 1.000 21 1988 2017
dbSNP: rs66539573
rs66539573
OTC
1 1.000 0.120 X 38381393 missense variant A/G;T snv 0.700 1.000 20 1988 2002
dbSNP: rs66550389
rs66550389
OTC
1 1.000 0.120 X 38369854 missense variant G/A;C;T snv 0.800 1.000 20 1988 2002
dbSNP: rs66642398
rs66642398
OTC
1 1.000 0.120 X 38403663 missense variant G/A;T snv 0.700 1.000 20 1988 2002
dbSNP: rs66724222
rs66724222
OTC
1 1.000 0.120 X 38408988 missense variant G/A;T snv 0.700 1.000 20 1988 2002
dbSNP: rs66867430
rs66867430
OTC
1 1.000 0.120 X 38401391 missense variant A/C;G snv 0.700 1.000 20 1988 2002