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: rs3917
rs3917
COL1A2
3 0.925 0.160 7 94431047 3 prime UTR variant -/GCTGTCC;GTTG;GTTGTCC;GTTGTGC ins 0.010 1.000 1 2013 2013