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: rs72656307
rs72656307
COL1A1
2 0.925 0.240 17 50187968 missense variant G/A snv 2.4E-05 2.1E-05 0.010 1.000 1 2007 2007