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: rs1567187420
rs1567187420
1 1.000 16 2106903 frameshift variant C/- del 0.700 0
dbSNP: rs1567195868
rs1567195868
1 1.000 16 2109473 frameshift variant -/A delins 0.700 0
dbSNP: rs879255641
rs879255641
1 1.000 11 62629281 frameshift variant CT/- del 0.700 0
dbSNP: rs1567190244
rs1567190244
1 1.000 16 2108041 intron variant C/T snv 0.700 1.000 1 2007 2007
dbSNP: rs770519542
rs770519542
2 0.925 11 62630788 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs879255642
rs879255642
2 0.925 11 62631032 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs879255643
rs879255643
2 0.925 11 62626633 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1616940
rs1616940
2 0.925 0.120 16 2114843 missense variant A/G;T snv 0.700 1.000 2 2012 2014
dbSNP: rs199476100
rs199476100
2 0.925 0.120 16 2114489 missense variant A/G snv 4.3E-06 0.700 1.000 3 1999 2012