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: rs72651658
rs72651658
COL1A1
5 0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06 0.700 1.000 15 1989 2008