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: 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: rs387907338
rs387907338
5 0.827 0.200 11 111911559 missense variant G/A;T snv 0.010 1.000 1 2010 2010
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
dbSNP: rs782809283
rs782809283
1 1.000 0.040 11 111911693 missense variant C/T snv 1.8E-05 4.2E-05 0.010 1.000 1 2010 2010