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: rs104894201
rs104894201
12 0.763 0.280 11 111908934 missense variant T/C snv 0.020 1.000 2 2011 2019
dbSNP: rs150516929
rs150516929
8 0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 0.010 1.000 1 2010 2010
dbSNP: rs375933774
rs375933774
2 0.925 0.040 11 111911691 missense variant G/A snv 2.3E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs781902168
rs781902168
3 0.882 0.040 11 111911694 missense variant G/A;C snv 3.2E-05 0.010 1.000 1 2015 2015