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: rs3792267
rs3792267
4 0.882 0.200 2 240591757 non coding transcript exon variant G/A snv 0.23 0.020 1.000 2 2014 2015
dbSNP: rs3842570
rs3842570
2 0.925 0.160 2 240594824 intron variant -/CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC delins 0.010 1.000 1 2014 2014
dbSNP: rs5030952
rs5030952
3 0.925 0.160 2 240603286 intron variant C/G;T snv 0.010 1.000 1 2014 2014