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: rs116171274
rs116171274
3 0.882 0.120 8 64596707 missense variant G/A;T snv 5.2E-04; 8.0E-06 0.700 1.000 5 2009 2014
dbSNP: rs587777222
rs587777222
2 0.925 0.120 8 64615194 missense variant T/C snv 2.8E-05 2.8E-05 0.700 1.000 4 2009 2014
dbSNP: rs72554620
rs72554620
3 0.882 0.200 8 64604753 stop gained G/A snv 4.0E-06 1.4E-05 0.700 1.000 3 1998 2010
dbSNP: rs746979262
rs746979262
1 1.000 0.080 8 64624475 stop gained G/A snv 8.0E-06 7.0E-06 0.700 1.000 3 2009 2014
dbSNP: rs1060502224
rs1060502224
1 1.000 0.080 8 64596876 frameshift variant -/A delins 8.0E-06 0.700 0
dbSNP: rs121908611
rs121908611
2 0.925 0.120 8 64596913 missense variant C/T snv 2.8E-05 6.3E-05 0.700 0
dbSNP: rs121908613
rs121908613
3 0.882 0.120 8 64615716 stop gained A/G;T snv 7.6E-05 0.700 0
dbSNP: rs200737038
rs200737038
1 1.000 0.080 8 64616207 stop gained G/A snv 1.4E-04 7.0E-05 0.700 0
dbSNP: rs770285398
rs770285398
1 1.000 0.080 8 64616217 frameshift variant GTTT/- delins 2.8E-05 2.8E-05 0.700 0
dbSNP: rs794727501
rs794727501
1 1.000 0.080 8 64616016 stop gained C/G;T snv 0.700 0