Gene: COL3A1 ×
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: rs121912923
rs121912923
COL3A1
3 0.882 0.160 2 188996479 missense variant G/A;C;T snv 0.700 0
dbSNP: rs1553507180
rs1553507180
COL3A1
2 0.925 0.040 2 188988083 frameshift variant C/- delins 0.700 0
dbSNP: rs1553507867
rs1553507867
COL3A1 ; MIR3606
2 0.925 0.040 2 188994066 missense variant G/A snv 0.700 0