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: rs587780588
rs587780588
COL4A1
1 1.000 13 110183002 missense variant C/T snv 0.700 1.000 3 2006 2012
dbSNP: rs797045034
rs797045034
COL4A1
2 0.925 0.120 13 110177896 missense variant C/T snv 0.700 1.000 1 2016 2016