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: rs104893810
rs104893810
5 0.790 0.360 3 30691477 missense variant C/T snv 0.710 1.000 1 2005 2013
dbSNP: rs104893811
rs104893811
2 0.851 0.160 3 30674228 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1553303352
rs1553303352
2 0.882 0.120 1 218437368 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs61762550
rs61762550
1 1.000 0.120 3 30671760 missense variant C/A;T snv 4.0E-06; 1.2E-04 0.010 1.000 1 2017 2017
dbSNP: rs869312903
rs869312903
1 0.882 0.120 1 218436119 missense variant C/A;T snv 0.010 1.000 1 2018 2018