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: rs200786329
rs200786329
COL4A1
3 0.925 13 110201467 missense variant G/A snv 5.2E-05 1.7E-04 0.800 1.000 1 2012 2012
dbSNP: rs397514624
rs397514624
COL4A1
3 0.925 13 110187254 missense variant G/A;C;T snv 1.6E-05; 4.0E-06 0.800 1.000 1 2012 2012