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: rs397514700
rs397514700
1 1.000 0.240 2 69075602 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs869312895
rs869312895
1 1.000 0.240 2 69182527 frameshift variant -/T delins 0.700 1.000 1 2014 2014
dbSNP: rs869312896
rs869312896
1 1.000 0.240 2 69071786 splice region variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs869312897
rs869312897
1 1.000 0.240 2 69181846 missense variant G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs397514701
rs397514701
1 1.000 0.240 2 69044779 stop gained C/T snv 0.700 0
dbSNP: rs879255533
rs879255533
1 1.000 0.240 2 69245213 intron variant A/C;G snv 0.700 0