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