Gene: COL3A1 ×
Source: CLINVAR ×
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: rs587779428
rs587779428
COL3A1
1 1.000 0.160 2 189006346 missense variant G/T snv 0.810 1.000 0 1989 2017
dbSNP: rs587779584
rs587779584
COL3A1 ; MIR3606
1 1.000 0.160 2 188996134 missense variant G/A snv 0.800 1.000 8 1989 2017
dbSNP: rs121912926
rs121912926
COL3A1
1 1.000 0.160 2 188988099 missense variant G/A;C;T snv 0.800 1.000 7 1989 2017
dbSNP: rs587779489
rs587779489
COL3A1 ; MIR3606
1 1.000 0.160 2 188994577 missense variant G/A;C snv 0.800 1.000 7 1989 2017
dbSNP: rs587779691
rs587779691
COL3A1
1 1.000 0.160 2 188997166 missense variant G/A snv 0.800 1.000 7 1989 2015
dbSNP: rs587779705
rs587779705
COL3A1
1 1.000 0.160 2 188990316 missense variant G/C;T snv 0.800 1.000 7 1989 2017
dbSNP: rs587779427
rs587779427
COL3A1
1 1.000 0.160 2 188991005 missense variant G/T snv 0.800 1.000 6 1989 2017
dbSNP: rs121912918
rs121912918
COL3A1
1 1.000 0.160 2 189008135 missense variant G/A;T snv 0.800 1.000 5 1989 2017
dbSNP: rs587779431
rs587779431
COL3A1
1 1.000 0.160 2 189008108 missense variant G/A;T snv 0.800 1.000 5 1989 2017
dbSNP: rs587779588
rs587779588
COL3A1
1 1.000 0.160 2 188992194 missense variant G/A;T snv 0.800 1.000 5 1989 2017
dbSNP: rs587779704
rs587779704
COL3A1
1 1.000 0.160 2 189006354 missense variant G/A;T snv 0.800 1.000 5 1989 2017
dbSNP: rs587779709
rs587779709
COL3A1
1 1.000 0.160 2 189006947 missense variant G/T snv 0.800 1.000 1 1989 2017
dbSNP: rs111505097
rs111505097
COL3A1
1 1.000 0.160 2 189008943 missense variant G/A;T snv 0.800 1.000 0 2013 2017
dbSNP: rs112456072
rs112456072
COL3A1
1 1.000 0.160 2 189008961 missense variant G/A snv 0.800 1.000 0 2013 2017
dbSNP: rs113485686
rs113485686
COL3A1
1 1.000 0.160 2 189001554 missense variant G/A snv 0.800 1.000 0 2013 2017
dbSNP: rs121912913
rs121912913
COL3A1
1 1.000 0.160 2 189004302 missense variant G/A;T snv 0.800 1.000 0 1989 2017
dbSNP: rs121912914
rs121912914
COL3A1
1 1.000 0.160 2 189006400 missense variant G/A;T snv 0.800 1.000 0 1989 2017
dbSNP: rs121912915
rs121912915
COL3A1
1 1.000 0.160 2 189006965 missense variant G/T snv 0.800 1.000 0 1989 2017
dbSNP: rs121912916
rs121912916
COL3A1
1 1.000 0.160 2 189006207 missense variant G/A snv 0.800 1.000 0 1989 2017
dbSNP: rs121912917
rs121912917
COL3A1
1 1.000 0.160 2 189008952 missense variant G/A;T snv 0.800 1.000 0 1989 2017
dbSNP: rs121912919
rs121912919
COL3A1
1 1.000 0.160 2 188991678 missense variant G/A snv 0.800 1.000 0 1989 2017
dbSNP: rs121912921
rs121912921
COL3A1
1 1.000 0.160 2 188998693 missense variant G/A snv 0.800 1.000 0 1989 2017
dbSNP: rs121912922
rs121912922
COL3A1
1 1.000 0.160 2 189004312 missense variant G/A;T snv 4.2E-06 0.800 1.000 0 1989 2017
dbSNP: rs121912923
rs121912923
COL3A1
3 0.882 0.160 2 188996479 missense variant G/A;C;T snv 0.800 1.000 0 1989 2017
dbSNP: rs121912924
rs121912924
COL3A1
1 1.000 0.160 2 189007546 missense variant G/A snv 0.800 1.000 0 1989 2017