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: rs367600930
rs367600930
CEP120
2 0.925 0.160 5 123399153 missense variant C/G snv 2.8E-05 2.8E-05 0.800 1.000 1 2015 2015
dbSNP: rs759125480
rs759125480
CEP120
16 0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 0.700 0