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: rs1203164637
rs1203164637
1 0.925 0.360 4 71557721 missense variant C/T snv 7.0E-06 0.020 1.000 2 2006 2010
dbSNP: rs121908857
rs121908857
1 0.925 0.360 4 71472728 missense variant G/A snv 7.0E-06 0.020 1.000 2 2016 2018
dbSNP: rs121908858
rs121908858
1 0.925 0.360 4 71339333 stop gained C/T snv 0.020 1.000 2 2005 2008