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: rs10195252
rs10195252
7 0.925 0.080 2 164656581 intron variant T/C snv 0.48 0.800 1.000 1 2010 2010
dbSNP: rs1128249
rs1128249
10 1.000 0.080 2 164672114 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12328675
rs12328675
4 2 164684290 3 prime UTR variant T/C snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs13389219
rs13389219
9 1.000 0.080 2 164672366 intron variant C/T snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs7607980
rs7607980
8 1.000 0.080 2 164694691 missense variant T/C snv 0.11 0.13 0.700 1.000 1 2018 2018