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: rs753000469
rs753000469
4 0.878 0.179 1 212859113 missense variant C/T snp 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs7903146
rs7903146
59 0.596 0.536 10 112998590 intron variant C/G,T snp 0.26 0.010 1.000 1 2014 2014