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: rs17366568
rs17366568
6 0.851 0.200 3 186852664 non coding transcript exon variant G/A snv 8.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs368234815
rs368234815
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.010 1.000 1 2018 2018
dbSNP: rs786202601
rs786202601
3 1.000 0.120 22 28694059 frameshift variant T/- delins 0.010 1.000 1 2006 2006
dbSNP: rs3774261
rs3774261
10 0.776 0.320 3 186853770 splice region variant A/G snv 0.55 0.010 1.000 1 2011 2011
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs7639352
rs7639352
1 3 186860685 upstream gene variant C/T snv 0.29 0.010 1.000 1 2011 2011