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 0.020 1.000 2 2003 2017
dbSNP: rs894278
rs894278
4 0.882 0.080 4 89813384 intron variant T/G snv 0.15 0.010 1.000 1 2017 2017