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: rs1304037
rs1304037
3 0.882 0.200 2 112774659 3 prime UTR variant T/C snv 0.32 0.030 1.000 3 2013 2020
dbSNP: rs17561
rs17561
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.030 1.000 3 2013 2015
dbSNP: rs2856836
rs2856836
9 0.763 0.280 2 112774506 3 prime UTR variant A/G snv 0.26 0.030 1.000 3 2013 2020
dbSNP: rs3783525
rs3783525
1 1.000 0.040 2 112784242 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs3783550
rs3783550
5 0.827 0.200 2 112775308 intron variant G/T snv 0.64 0.70 0.010 1.000 1 2015 2015
dbSNP: rs3783553
rs3783553
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2013 2013