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: rs3196378
rs3196378
COL5A1 ; LOC101448202
4 0.882 0.080 9 134843036 3 prime UTR variant C/A;G;T snv 0.010 1.000 1 2020 2020