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: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.070 0.857 7 2003 2015
dbSNP: rs125701
rs125701
7 0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13 0.020 1.000 2 2011 2015
dbSNP: rs1424375643
rs1424375643
2 0.925 0.080 3 9751856 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006