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: rs72645321
rs72645321
COL1A1
2 0.925 0.120 17 50197045 missense variant C/T snv 0.700 1.000 11 1989 2007