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: rs104886186
rs104886186
COL4A5
2 0.925 0.160 X 108620303 missense variant G/A snv 0.710 1.000 1 1996 1996