Gene: COL5A1 ×
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: rs12722
rs12722
COL5A1 ; LOC101448202
6 0.882 0.120 9 134842570 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2018 2018