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: rs17561
rs17561
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2007 2007
dbSNP: rs2856836
rs2856836
9 0.763 0.280 2 112774506 3 prime UTR variant A/G snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs3783553
rs3783553
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2016 2016