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: rs1353428252
rs1353428252
5 0.851 0.120 15 90088681 missense variant A/C snv 8.0E-06 0.060 1.000 6 2014 2019
dbSNP: rs121913503
rs121913503
23 0.689 0.200 15 90088606 missense variant C/A;T snv 0.020 1.000 2 2016 2017
dbSNP: rs1057519736
rs1057519736
13 0.752 0.160 15 90088605 missense variant C/G snv 0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1162844242
rs1162844242
2 0.925 0.120 3 38138711 missense variant G/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs1413407735
rs1413407735
1 1.000 0.080 3 49360964 missense variant T/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs747931353
rs747931353
CR2
1 1.000 0.080 1 207454468 missense variant G/A;T snv 5.1E-06; 5.1E-06 0.010 1.000 1 2016 2016