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
1 0.882 0.200 2 240591757 non coding transcript exon variant G/A snv 0.23 0.770 0.857 0 2006 2016
dbSNP: rs2975760
rs2975760
2 1.000 0.080 2 240591746 non coding transcript exon variant T/C snv 0.12 0.730 1.000 0 2006 2014
dbSNP: rs5030952
rs5030952
1 0.925 0.160 2 240603286 intron variant C/G;T snv 0.730 1.000 0 2010 2013
dbSNP: rs3842570
rs3842570
1 0.925 0.160 2 240594824 intron variant -/CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC delins 0.720 1.000 0 2010 2011