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: rs115099192
rs115099192
5 0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs387906769
rs387906769
7 0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05 0.010 < 0.001 1 2017 2017
dbSNP: rs56166237
rs56166237
4 0.882 0.120 8 11708411 missense variant G/T snv 3.6E-03 2.0E-03 0.010 < 0.001 1 2017 2017
dbSNP: rs748737164
rs748737164
1 1.000 0.040 8 11758455 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2019 2019