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: rs4148323
rs4148323
1 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.800 1.000 2 2010 2013
dbSNP: rs11891311
rs11891311
1 2 233730664 intron variant G/A snv 0.42 0.800 1.000 1 2009 2013
dbSNP: rs28898617
rs28898617
1 1.000 0.040 2 233729143 missense variant A/G snv 3.5E-03 1.1E-03 0.700 1.000 1 2018 2018
dbSNP: rs28946889
rs28946889
1 2 233762816 intron variant G/T snv 0.20 0.800 1.000 1 2009 2018
dbSNP: rs75520741
rs75520741
1 2 233732958 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7564935
rs7564935
1 2 233736540 intron variant G/T snv 0.37 0.800 1.000 1 2009 2019
dbSNP: rs8330
rs8330
1 1.000 0.040 2 233772999 3 prime UTR variant G/C snv 0.72 0.800 1.000 1 2009 2018