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: rs267598140
rs267598140
3 0.925 0.080 1 162778600 missense variant T/A;G snv 0.700 1.000 3 2008 2013
dbSNP: rs115169993
rs115169993
1 1.000 0.040 1 162772032 missense variant G/A snv 7.8E-04 2.9E-03 0.010 1.000 1 2013 2013
dbSNP: rs144594252
rs144594252
3 0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs201701502
rs201701502
5 0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs765660823
rs765660823
4 0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04 0.010 1.000 1 2018 2018