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 2 2016 2019
dbSNP: rs1322599
rs1322599
1 6 16758194 intron variant C/T snv 0.20 0.700 1.000 1 2018 2018