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
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 10 2006 2020
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 10 2006 2020
dbSNP: rs121913338
rs121913338
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1225976306
rs1225976306
8 0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 0.010 1.000 1 2016 2016
dbSNP: rs868021367
rs868021367
3 0.882 0.080 7 140753319 missense variant C/G snv 0.010 < 0.001 1 2014 2014