Source: ALL
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: rs1333049
rs1333049
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs17128183
rs17128183
5 0.882 0.120 14 55112795 intergenic variant A/G snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs2274273
rs2274273
5 0.882 0.120 14 55147918 downstream gene variant G/A snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 < 0.001 1 2011 2011