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 0.100 0.800 15 2001 2017
dbSNP: rs746702110
rs746702110
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.020 1.000 2 2009 2010
dbSNP: rs125701
rs125701
7 0.790 0.160 3 9748794 upstream gene variant G/A snv 0.13 0.010 1.000 1 2016 2016