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: rs112431538
rs112431538
4 1.000 0.120 17 7673767 missense variant C/T snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121912665
rs121912665
7 1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs201744589
rs201744589
6 0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs879253942
rs879253942
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2005 2005