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: rs72556295
rs72556295
OTC
1 1.000 0.120 X 38403640 missense variant G/T snv 0.710 1.000 20 1988 2002
dbSNP: rs72556301
rs72556301
OTC
1 1.000 0.120 X 38403666 missense variant G/A snv 0.710 1.000 20 1988 2002
dbSNP: rs72558420
rs72558420
OTC
1 1.000 0.120 X 38403717 missense variant C/T snv 0.710 1.000 20 1988 2002
dbSNP: rs72558446
rs72558446
OTC
1 1.000 0.120 X 38408952 missense variant G/T snv 0.710 1.000 20 1988 2009
dbSNP: rs72558487
rs72558487
OTC
1 1.000 0.120 X 38421026 missense variant G/C snv 0.710 1.000 20 1988 2004
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: rs66539573
rs66539573
OTC
1 1.000 0.120 X 38381393 missense variant A/G;T snv 0.700 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
dbSNP: rs67156896
rs67156896
OTC
1 1.000 0.120 X 38408949 missense variant C/A;T snv 0.700 1.000 20 1988 2002
dbSNP: rs67333670
rs67333670
OTC
1 1.000 0.120 X 38408943 missense variant C/A;T snv 0.700 1.000 20 1988 2002
dbSNP: rs67993095
rs67993095
OTC
1 1.000 0.120 X 38411899 missense variant A/G;T snv 0.700 1.000 20 1988 2002
dbSNP: rs72554306
rs72554306
OTC
1 1.000 0.120 X 38367328 missense variant G/T snv 0.700 1.000 20 1988 2002
dbSNP: rs72554311
rs72554311
OTC
1 1.000 0.120 X 38367346 missense variant C/G snv 0.700 1.000 20 1988 2002
dbSNP: rs72554319
rs72554319
OTC
1 1.000 0.120 X 38367376 missense variant T/G snv 0.700 1.000 20 1988 2002
dbSNP: rs72554320
rs72554320
OTC
1 1.000 0.120 X 38367380 missense variant T/C snv 0.700 1.000 20 1988 2002
dbSNP: rs72554323
rs72554323
OTC
1 1.000 0.120 X 38367392 missense variant C/T snv 0.700 1.000 20 1988 2002
dbSNP: rs72554324
rs72554324
OTC
1 1.000 0.120 X 38367401 missense variant T/C snv 0.700 1.000 20 1988 2002
dbSNP: rs72554336
rs72554336
OTC
1 1.000 0.120 X 38369826 missense variant G/C snv 0.700 1.000 20 1988 2002
dbSNP: rs72554337
rs72554337
OTC
1 1.000 0.120 X 38369827 missense variant G/A snv 0.700 1.000 20 1988 2002
dbSNP: rs72554339
rs72554339
OTC
1 1.000 0.120 X 38369843 missense variant A/T snv 0.700 1.000 20 1988 2002
dbSNP: rs72554342
rs72554342
OTC
1 1.000 0.120 X 38369849 missense variant T/C;G snv 5.5E-06 0.700 1.000 20 1988 2002
dbSNP: rs72554344
rs72554344
OTC
1 1.000 0.120 X 38369856 missense variant A/G snv 0.700 1.000 20 1988 2002
dbSNP: rs72554349
rs72554349
OTC
1 1.000 0.120 X 38381342 missense variant G/A snv 0.700 1.000 20 1988 2002