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: rs1019670
rs1019670
1 11 60173126 missense variant T/A snv 0.700 1.000 1 2013 2013
dbSNP: rs7232
rs7232
4 1.000 0.080 11 60173126 missense variant T/A snv 0.31 0.27 0.700 1.000 1 2013 2013
dbSNP: rs7935829
rs7935829
3 1.000 0.080 11 60175342 intron variant A/G snv 0.33 0.700 1.000 1 2017 2017