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: rs1563221666
rs1563221666
14 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
dbSNP: rs121917834
rs121917834
10 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.040 1.000 4 2004 2019
dbSNP: rs121917836
rs121917836
4 0.882 0.040 8 22162727 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs200039720
rs200039720
3 0.925 0.080 8 22162688 missense variant G/A snv 1.5E-04 1.0E-04 0.010 1.000 1 2010 2010
dbSNP: rs201933678
rs201933678
1 8 22163196 stop gained C/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2010 2010