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: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2003 2003
dbSNP: rs356220
rs356220
3 0.925 0.080 4 89720189 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs431905511
rs431905511
9 0.827 0.080 4 89828154 missense variant C/T snv 0.010 1.000 1 2017 2017