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: rs137853115
rs137853115
IFT80 ; TRIM59-IFT80
1 1.000 0.120 3 160377485 missense variant G/C snv 0.800 1.000 1 2007 2007
dbSNP: rs137853116
rs137853116
IFT80 ; TRIM59-IFT80
1 1.000 0.120 3 160268535 missense variant C/G snv 3.2E-05 0.800 1.000 1 2007 2007
dbSNP: rs138081429
rs138081429
IFT80 ; TRIM59-IFT80
1 1.000 0.120 3 160319848 missense variant T/C snv 1.5E-04 1.4E-04 0.700 1.000 2 2007 2009
dbSNP: rs138004478
rs138004478
IFT80 ; TRIM59-IFT80
3 0.882 0.120 3 160356069 missense variant C/G;T snv 6.8E-05 0.700 0
dbSNP: rs431905497
rs431905497
IFT80 ; TRIM59-IFT80
1 1.000 0.120 3 160280683 inframe deletion AAT/- delins 0.700 0