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: rs1555071691
rs1555071691
CFAP300
1 1.000 11 102083171 missense variant A/G snv 0.800 1.000 2 2018 2018
dbSNP: rs1555069023
rs1555069023
CFAP300
1 1.000 11 102058885 frameshift variant TTT/CC delins 0.700 0
dbSNP: rs561237622
rs561237622
CFAP300
1 1.000 11 102066577 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs754773453
rs754773453
CFAP300
1 1.000 11 102066649 stop gained A/T snv 2.1E-05 0.700 0
dbSNP: rs767760877
rs767760877
CFAP300
1 1.000 11 102047858 stop gained C/A;T snv 4.0E-06; 1.2E-05 0.700 0