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: rs727504136
rs727504136
3 0.882 0.040 2 166012255 stop gained G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs766910280
rs766910280
3 0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs773474610
rs773474610
2 0.925 0.040 2 62222596 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs781204054
rs781204054
2 0.925 0.040 2 165312036 missense variant T/G snv 5.2E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs794726752
rs794726752
3 0.882 0.040 2 165996021 stop gained G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs796052839
rs796052839
3 0.882 0.200 X 100407579 missense variant T/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs931949929
rs931949929
3 0.882 0.040 19 35033607 missense variant A/G;T snv 0.010 1.000 1 2012 2012