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: rs10465885
rs10465885
4 0.882 0.080 1 147760632 intron variant T/A;C snv 0.710 1.000 2 2011 2018
dbSNP: rs35594137
rs35594137
1 1.000 0.080 1 147773393 upstream gene variant C/A;T snv 0.030 1.000 3 2011 2019
dbSNP: rs121434558
rs121434558
3 0.882 0.120 1 147758977 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs387906612
rs387906612
2 0.925 0.080 1 147759094 stop gained G/A snv 0.010 1.000 1 2014 2014