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: rs17563
rs17563
8 0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44 0.020 1.000 2 2012 2015
dbSNP: rs140920120
rs140920120
2 0.925 0.080 14 53952099 missense variant C/A;G snv 2.8E-04 0.010 1.000 1 2013 2013