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: rs2109505
rs2109505
6 0.851 0.200 7 87450090 splice region variant T/A snv 0.21 0.22 0.010 1.000 1 2015 2015
dbSNP: rs2230028
rs2230028
5 0.827 0.080 7 87426860 missense variant T/C;G snv 1.0E-01 0.010 1.000 1 2010 2010
dbSNP: rs58238559
rs58238559
3 0.882 0.120 7 87452957 missense variant T/C snv 1.1E-02 9.2E-03 0.010 1.000 1 2010 2010