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: rs121908515
rs121908515
3 0.882 0.280 2 32063962 stop gained C/A;T snv 4.1E-06; 4.6E-03 0.030 1.000 3 2004 2008
dbSNP: rs121908513
rs121908513
6 0.807 0.280 2 32116145 missense variant T/A snv 0.020 1.000 2 2002 2018
dbSNP: rs121908517
rs121908517
3 0.925 0.240 2 32063965 missense variant C/A snv 3.9E-04 6.2E-04 0.020 1.000 2 2004 2007
dbSNP: rs121908510
rs121908510
2 0.925 0.240 2 32136898 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs762630964
rs762630964
1 1.000 0.160 2 32145007 missense variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008