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: rs1555975756
rs1555975756
OTC
4 1.000 0.120 X 38401693 intron variant G/A snv 0.700 0
dbSNP: rs367814475
rs367814475
IVD
9 0.925 0.080 15 40415482 missense variant G/C;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 0
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.030 0.667 3 2014 2019
dbSNP: rs121909731
rs121909731
GLUD1
7 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121912594
rs121912594
CPS1
7 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs367543005
rs367543005
ASL
2 1.000 0.120 7 66089693 stop gained C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs72554356
rs72554356
OTC
2 1.000 0.120 X 38381417 missense variant C/T snv 1.1E-05 0.010 1.000 1 2007 2007