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: rs1057521106
rs1057521106
COL3A1
1 1.000 0.160 2 188991016 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1057524653
rs1057524653
COL3A1 ; MIR3606
1 1.000 0.160 2 188995074 missense variant G/A;C snv 0.700 0
dbSNP: rs1060500187
rs1060500187
COL3A1
1 1.000 0.160 2 189010187 stop gained G/A snv 0.700 0
dbSNP: rs1060500193
rs1060500193
COL3A1
1 1.000 0.160 2 189001425 missense variant G/A snv 0.700 0
dbSNP: rs1060500194
rs1060500194
COL3A1 ; MIR3606
1 1.000 0.160 2 188994235 missense variant G/C snv 0.700 1.000 5 1993 2015
dbSNP: rs1060500199
rs1060500199
COL3A1 ; MIR3606
1 1.000 0.160 2 188996167 frameshift variant C/- delins 0.700 0
dbSNP: rs1060500200
rs1060500200
COL3A1 ; LOC105373791
1 1.000 0.160 2 188984761 frameshift variant T/- del 0.700 0
dbSNP: rs1060500203
rs1060500203
COL3A1
1 1.000 0.160 2 189007501 missense variant G/T snv 0.700 0
dbSNP: rs1060500204
rs1060500204
COL3A1 ; MIR3606
1 1.000 0.160 2 188994540 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1085307896
rs1085307896
COL3A1
1 1.000 0.160 2 189004072 missense variant G/A snv 0.700 0
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: rs111929073
rs111929073
COL3A1
1 1.000 0.160 2 188999471 missense variant G/A;C;T snv 0.700 1.000 2 2006 2014
dbSNP: rs112371422
rs112371422
COL3A1
1 1.000 0.160 2 189007569 stop gained C/G;T snv 8.0E-05 0.700 0
dbSNP: rs112456072
rs112456072
COL3A1
1 1.000 0.160 2 189008961 missense variant G/A snv 0.800 1.000 0 2013 2017
dbSNP: rs112532745
rs112532745
COL3A1
1 1.000 0.160 2 189010366 splice donor variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs113485686
rs113485686
COL3A1
1 1.000 0.160 2 189001554 missense variant G/A snv 0.800 1.000 0 2013 2017
dbSNP: rs113871730
rs113871730
COL3A1
1 1.000 0.160 2 188991697 missense variant G/A snv 0.700 0
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: rs121912918
rs121912918
COL3A1
1 1.000 0.160 2 189008135 missense variant G/A;T snv 0.800 1.000 5 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