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: rs1554102026
rs1554102026
CEP120
1 1.000 5 123378355 missense variant A/G snv 0.800 1.000 1 2016 2016
dbSNP: rs1554104276
rs1554104276
CEP120
1 1.000 5 123399167 missense variant A/G snv 0.800 1.000 1 2016 2016
dbSNP: rs775080726
rs775080726
CEP120
1 1.000 5 123385068 missense variant G/A;C snv 2.0E-05 1.4E-05 0.800 1.000 1 2016 2016
dbSNP: rs114280473
rs114280473
CEP120
1 1.000 5 123378398 missense variant G/A snv 3.8E-03 4.1E-03 0.700 0
dbSNP: rs1554103267
rs1554103267
CEP120
1 1.000 5 123390040 frameshift variant -/T ins 0.700 0