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 2015 2015
dbSNP: rs2856838
rs2856838
4 0.851 0.200 2 112782395 intron variant G/A snv 0.37 0.010 1.000 1 2017 2017