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: rs4665972
rs4665972
3 2 27375230 intron variant T/C snv 0.69 0.800 1.000 1 2013 2019
dbSNP: rs13472
rs13472
3 0.925 0.120 2 27377372 3 prime UTR variant G/A snv 0.38 0.700 1.000 1 2012 2012
dbSNP: rs1528533
rs1528533
3 0.925 0.120 2 27372889 non coding transcript exon variant G/C snv 0.47 0.700 1.000 1 2012 2012