Table 2.

Significantly associated gene-based aggregation units for circulating FVIII and VWF levels based on whole-genome sequencing data from the TOPMed program

Aggregation strategyGenenVarMACPburdenPSMMAT
FVIII levels      
Coding, promoter, and enhancer variants STAB2 61 315 2.71E−06 2.85E−10 
LOF and deleterious missense variants STAB2 158 611 1.97E−16 4.93E−19 
LOF and deleterious missense variants VWF 86 353 8.62E−18 1.23E−18 
LOF variants STAB2 53 297 2.44E−06 1.92E−11 
LOF variants ABO 17 16763 3.36E−11 7.29E−11 
VWF levels      
Coding, promoter, and enhancer variants STAB2 36 123 3.64E−08 1.08E−08 
LOF and deleterious missense variants VWF 76 222 3.34E−15 8.83E−16 
LOF and deleterious missense variants STAB2 98 307 9.50E−15 8.76E−15 
LOF variants VWF 22 44 5.30E−07 5.30E−10 
LOF variants STAB2 29 114 7.64E−09 6.14E−10 
LOF variants ABO 15 12438 2.67E−08 9.39E−08 
Aggregation strategyGenenVarMACPburdenPSMMAT
FVIII levels      
Coding, promoter, and enhancer variants STAB2 61 315 2.71E−06 2.85E−10 
LOF and deleterious missense variants STAB2 158 611 1.97E−16 4.93E−19 
LOF and deleterious missense variants VWF 86 353 8.62E−18 1.23E−18 
LOF variants STAB2 53 297 2.44E−06 1.92E−11 
LOF variants ABO 17 16763 3.36E−11 7.29E−11 
VWF levels      
Coding, promoter, and enhancer variants STAB2 36 123 3.64E−08 1.08E−08 
LOF and deleterious missense variants VWF 76 222 3.34E−15 8.83E−16 
LOF and deleterious missense variants STAB2 98 307 9.50E−15 8.76E−15 
LOF variants VWF 22 44 5.30E−07 5.30E−10 
LOF variants STAB2 29 114 7.64E−09 6.14E−10 
LOF variants ABO 15 12438 2.67E−08 9.39E−08 

LOF, loss-of-function; MAC, cumulative minor allele count of the included variants; nVar, number of genetic variants included in the aggregation test.

View Large
This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal