Source: ALL
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: rs1085307709
rs1085307709
COL4A1
3 0.882 0.120 13 110170574 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs113994109
rs113994109
COL4A1
5 0.827 0.200 13 110179370 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.010 1.000 1 1998 1998