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: rs137852677
rs137852677
2 0.925 0.080 2 190975830 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs137852679
rs137852679
2 0.925 0.080 2 190983699 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs387906758
rs387906758
6 0.851 0.080 2 190995185 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs387906760
rs387906760
13 0.790 0.200 2 190995184 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs387906762
rs387906762
2 0.925 0.080 2 190998246 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs587777630
rs587777630
16 0.716 0.440 2 190986921 missense variant G/A snv 0.010 1.000 1 2012 2012