Gene: CPS1 ×
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: rs121912594
rs121912594
CPS1
7 0.882 0.160 2 210675762 missense variant A/C snv 0.700 0
dbSNP: rs1414143303
rs1414143303
CPS1
2 1.000 0.120 2 210660512 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1553509010
rs1553509010
CPS1
2 1.000 0.120 2 210573379 frameshift variant -/AAGTGGTT delins 0.700 0