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: rs12917
rs12917
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.020 1.000 2 2007 2010
dbSNP: rs773919809
rs773919809
13 0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05 0.020 0.500 2 2007 2013
dbSNP: rs34180180
rs34180180
2 1.000 0.040 10 129466848 upstream gene variant G/A snv 4.8E-02 0.010 1.000 1 2016 2016