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: rs3823355
rs3823355
1 1.000 0.040 6 29974306 upstream gene variant C/A;T snv 0.800 1.000 1 2010 2010
dbSNP: rs12206499
rs12206499
1 1.000 0.040 6 29969350 downstream gene variant A/G snv 0.27 0.700 1.000 2 2011 2012
dbSNP: rs60131261
rs60131261
1 1.000 0.040 6 29969559 downstream gene variant TTTA/- delins 0.26 0.700 1.000 1 2016 2016
dbSNP: rs6904029
rs6904029
4 0.851 0.200 6 29975290 non coding transcript exon variant G/A snv 0.29 0.26 0.700 1.000 1 2010 2010