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 0.800 1.000 26 1989 2017
dbSNP: rs794728199
rs794728199
FBN1
3 0.882 0.200 15 48489980 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121912920
rs121912920
COL3A1
2 0.925 0.160 2 189002316 missense variant G/A snv 0.700 1.000 20 1989 2003
dbSNP: rs587779692
rs587779692
COL3A1 ; MIR3606
2 0.925 0.240 2 188994297 missense variant G/A snv 0.700 1.000 6 1993 2015
dbSNP: rs1559056438
rs1559056438
COL3A1 ; MIR3606
2 0.925 0.200 2 188994727 missense variant G/A snv 0.700 0
dbSNP: rs587779595
rs587779595
COL3A1
3 0.925 0.200 2 189005351 missense variant G/A snv 0.700 0
dbSNP: rs587779715
rs587779715
COL3A1
2 0.925 0.200 2 189008089 missense variant G/C snv 0.700 0
dbSNP: rs863224860
rs863224860
COL3A1
2 0.925 0.160 2 189010732 stop gained C/T snv 0.700 0
dbSNP: rs869312034
rs869312034
COL3A1
2 0.925 0.160 2 189006260 splice donor variant G/A;T snv 0.700 0
dbSNP: rs121912926
rs121912926
COL3A1
1 1.000 0.160 2 188988099 missense variant G/A;C;T snv 0.800 1.000 32 1989 2017
dbSNP: rs587779427
rs587779427
COL3A1
1 1.000 0.160 2 188991005 missense variant G/T snv 0.800 1.000 32 1989 2017
dbSNP: rs587779489
rs587779489
COL3A1 ; MIR3606
1 1.000 0.160 2 188994577 missense variant G/A;C snv 0.800 1.000 32 1989 2017
dbSNP: rs587779584
rs587779584
COL3A1 ; MIR3606
1 1.000 0.160 2 188996134 missense variant G/A snv 0.800 1.000 32 1989 2017
dbSNP: rs587779705
rs587779705
COL3A1
1 1.000 0.160 2 188990316 missense variant G/C;T snv 0.800 1.000 32 1989 2017
dbSNP: rs121912918
rs121912918
COL3A1
1 1.000 0.160 2 189008135 missense variant G/A;T snv 0.800 1.000 31 1989 2017
dbSNP: rs587779431
rs587779431
COL3A1
1 1.000 0.160 2 189008108 missense variant G/A;T snv 0.800 1.000 31 1989 2017
dbSNP: rs587779588
rs587779588
COL3A1
1 1.000 0.160 2 188992194 missense variant G/A;T snv 0.800 1.000 31 1989 2017
dbSNP: rs587779704
rs587779704
COL3A1
1 1.000 0.160 2 189006354 missense variant G/A;T snv 0.800 1.000 31 1989 2017
dbSNP: rs121912913
rs121912913
COL3A1
1 1.000 0.160 2 189004302 missense variant G/A;T snv 0.800 1.000 26 1989 2017
dbSNP: rs121912914
rs121912914
COL3A1
1 1.000 0.160 2 189006400 missense variant G/A;T snv 0.800 1.000 26 1989 2017
dbSNP: rs121912915
rs121912915
COL3A1
1 1.000 0.160 2 189006965 missense variant G/T snv 0.800 1.000 26 1989 2017
dbSNP: rs121912916
rs121912916
COL3A1
1 1.000 0.160 2 189006207 missense variant G/A snv 0.800 1.000 26 1989 2017
dbSNP: rs121912917
rs121912917
COL3A1
1 1.000 0.160 2 189008952 missense variant G/A;T snv 0.800 1.000 26 1989 2017
dbSNP: rs121912919
rs121912919
COL3A1
1 1.000 0.160 2 188991678 missense variant G/A snv 0.800 1.000 26 1989 2017
dbSNP: rs121912921
rs121912921
COL3A1
1 1.000 0.160 2 188998693 missense variant G/A snv 0.800 1.000 26 1989 2017