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: rs121917839
rs121917839
2 0.925 0.120 5 177993032 missense variant G/A snv 6.8E-05 4.9E-05 0.020 1.000 2 2002 2006
dbSNP: rs121917841
rs121917841
2 0.925 0.120 5 177994185 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs121917843
rs121917843
3 0.882 0.160 5 177994231 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs137853100
rs137853100
2 0.925 0.120 5 177994152 missense variant C/T snv 3.6E-05 2.1E-05 0.010 1.000 1 2003 2003