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: rs72651663
rs72651663
COL1A1
1 1.000 0.120 17 50190353 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72653131
rs72653131
COL1A1
3 0.882 0.120 17 50190045 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72653134
rs72653134
COL1A1
1 1.000 0.120 17 50190036 missense variant C/G snv 0.700 1.000 20 1986 2015
dbSNP: rs72653136
rs72653136
COL1A1
2 0.925 0.120 17 50190027 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72653137
rs72653137
COL1A1
2 0.925 0.120 17 50190008 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72653143
rs72653143
COL1A1
2 0.925 0.120 17 50189867 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72653145
rs72653145
COL1A1
1 1.000 0.120 17 50189723 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72653152
rs72653152
COL1A1
2 0.925 0.120 17 50189520 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72653154
rs72653154
COL1A1
2 0.925 0.120 17 50189430 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72653159
rs72653159
COL1A1
1 1.000 0.120 17 50189266 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72653166
rs72653166
COL1A1
2 0.925 0.120 17 50189009 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72653167
rs72653167
COL1A1
1 1.000 0.120 17 50188947 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72653172
rs72653172
COL1A1
2 0.925 0.120 17 50188768 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72653178
rs72653178
COL1A1
2 0.925 0.120 17 50188619 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72656321
rs72656321
COL1A1
2 0.925 0.120 17 50187094 missense variant C/A;T snv 0.700 1.000 20 1986 2015
dbSNP: rs72656322
rs72656322
COL1A1
1 1.000 0.120 17 50187086 missense variant C/G snv 0.700 1.000 20 1986 2015
dbSNP: rs72656324
rs72656324
COL1A1
2 0.925 0.120 17 50187050 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72656325
rs72656325
COL1A1
1 1.000 0.120 17 50187031 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72656330
rs72656330
COL1A1
2 0.925 0.120 17 50186913 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72656331
rs72656331
COL1A1
2 0.925 0.120 17 50186903 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72656332
rs72656332
COL1A1
3 0.882 0.120 17 50186895 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs756846639
rs756846639
COL1A1
1 1.000 0.120 17 50199261 missense variant G/A;C;T snv 1.8E-05; 9.2E-06 0.700 1.000 20 1986 2015
dbSNP: rs1206388800
rs1206388800
COL1A2
1 1.000 0.120 7 94408342 missense variant C/T snv 4.0E-06 2.8E-05 0.700 1.000 15 1989 2009
dbSNP: rs66716547
rs66716547
COL1A2
1 1.000 0.120 7 94421935 missense variant G/A;T snv 0.700 1.000 15 1989 2009
dbSNP: rs66999265
rs66999265
COL1A2
1 1.000 0.120 7 94413111 missense variant G/A;T snv 0.700 1.000 15 1989 2009