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: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.040 1.000 4 2001 2020
dbSNP: rs356219
rs356219
9 0.776 0.240 4 89716450 intron variant G/A snv 0.54 0.020 1.000 2 2013 2017
dbSNP: rs11931074
rs11931074
7 0.851 0.080 4 89718364 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2736990
rs2736990
4 0.882 0.080 4 89757390 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs356182
rs356182
3 0.882 0.080 4 89704960 intron variant G/A snv 0.65 0.010 1.000 1 2016 2016