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: rs1114167414
rs1114167414
COL1A2
2 0.925 0.120 7 94426433 missense variant G/A snv 0.700 0
dbSNP: rs116794104
rs116794104
COL1A1
1 1.000 0.120 17 50195466 missense variant C/T snv 1.0E-03 4.2E-03 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: rs121912902
rs121912902
COL1A2
2 0.925 0.120 7 94424363 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs57377812
rs57377812
COL1A1
1 1.000 0.120 17 50194756 missense variant C/G;T snv 0.700 1.000 20 1986 2015
dbSNP: rs66501246
rs66501246
COL1A1
2 0.925 0.120 17 50195441 missense variant C/G;T snv 0.700 0
dbSNP: rs66507857
rs66507857
COL1A2
1 1.000 0.120 7 94425777 missense variant G/A;T snv 0.700 0
dbSNP: rs66548636
rs66548636
COL1A1
2 0.925 0.120 17 50195469 missense variant C/A;G;T snv 0.700 0
dbSNP: rs66592844
rs66592844
COL1A2
1 1.000 0.120 7 94421899 missense variant G/A;C snv 0.700 0
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: rs66929517
rs66929517
COL1A1
2 0.925 0.120 17 50190334 missense variant C/A;G snv 0.700 1.000 20 1986 2015
dbSNP: rs66948146
rs66948146
COL1A1
1 1.000 0.120 17 50186894 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs66999265
rs66999265
COL1A2
1 1.000 0.120 7 94413111 missense variant G/A;T snv 0.700 1.000 15 1989 2009
dbSNP: rs67067133
rs67067133
COL1A1
1 1.000 0.120 17 50190062 missense variant C/A;T snv 0.700 1.000 20 1986 2015
dbSNP: rs67422093
rs67422093
COL1A2
1 1.000 0.120 7 94425999 missense variant G/A;T snv 0.700 0
dbSNP: rs67445413
rs67445413
COL1A1
2 0.925 0.120 17 50189876 missense variant C/A;T snv 0.710 1.000 1 2008 2008
dbSNP: rs67507747
rs67507747
COL1A1
5 0.827 0.160 17 50194032 missense variant C/A;G;T snv 0.700 1.000 20 1986 2015
dbSNP: rs67682641
rs67682641
COL1A1
6 0.807 0.240 17 50194375 missense variant C/A;T snv 0.700 0
dbSNP: rs67771061
rs67771061
COL1A1
2 0.925 0.120 17 50188776 missense variant C/A;G;T snv 0.700 1.000 20 1986 2015
dbSNP: rs72645315
rs72645315
COL1A1
2 0.925 0.120 17 50197205 missense variant C/T snv 0.010 1.000 1 1995 1995
dbSNP: rs72645333
rs72645333
COL1A1
2 0.925 0.120 17 50196651 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72648328
rs72648328
COL1A1
1 1.000 0.120 17 50195267 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72648330
rs72648330
COL1A1
1 1.000 0.120 17 50195258 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72648333
rs72648333
COL1A1
2 0.925 0.120 17 50195099 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72648356
rs72648356
COL1A1
2 0.925 0.120 17 50194365 missense variant C/T snv 0.700 1.000 20 1986 2015