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: rs1442384172
rs1442384172
1 1.000 0.040 1 55046638 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs28942111
rs28942111
7 0.807 0.120 1 55044016 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs369067856
rs369067856
2 0.925 0.080 1 55043945 missense variant C/A;T snv 3.2E-05 5.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs775988212
rs775988212
2 0.925 0.080 1 55043976 missense variant T/C snv 1.2E-05 7.0E-06 0.010 1.000 1 2016 2016