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: rs1065780
rs1065780
1 1.000 0.040 7 45888078 upstream gene variant G/A snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs4619
rs4619
3 0.882 0.160 7 45893070 missense variant A/G snv 0.36 0.38 0.010 1.000 1 2012 2012