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: rs72654799
rs72654799
COL1A1
3 0.882 0.200 17 50188541 missense variant G/A;C snv 6.4E-05 0.020 1.000 2 2007 2017