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: rs113488022
rs113488022
484 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.040 1.000 4 2014 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.040 1.000 4 2014 2019
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs121913254
rs121913254
29 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121913255
rs121913255
7 0.667 0.400 1 114713907 missense variant T/A;G snv 0.010 1.000 1 2015 2015