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: rs1144700
rs1144700
5 6 16744456 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs760882
rs760882
1 6 16658900 intron variant T/A snv 0.63 0.700 1.000 1 2019 2019