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: rs1559061954
rs1559061954
COL3A1
1 1.000 0.160 2 189006937 missense variant G/T snv 0.700 1.000 5 1993 2015