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: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.030 1.000 3 2005 2015
dbSNP: rs1036199
rs1036199
3 0.925 0.160 5 157104725 missense variant C/A snv 0.87 0.83 0.010 1.000 1 2018 2018
dbSNP: rs1444669684
rs1444669684
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs72550870
rs72550870
8 0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 0.010 < 0.001 1 2008 2008