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: rs1260429820
rs1260429820
COL1A1
1 1.000 0.120 17 50187885 frameshift variant A/- del 0.010 1.000 1 2006 2006
dbSNP: rs193922143
rs193922143
COL1A1
1 1.000 0.120 17 50193003 frameshift variant A/- del 0.700 0
dbSNP: rs193922148
rs193922148
COL1A1
1 1.000 0.120 17 50190360 frameshift variant A/- del 0.700 0
dbSNP: rs193922151
rs193922151
COL1A1
2 0.925 0.120 17 50189521 frameshift variant A/- del 0.700 0
dbSNP: rs193922166
rs193922166
COL1A2
1 1.000 0.120 7 94427004 splice acceptor variant A/- delins 0.700 0
dbSNP: rs72667023
rs72667023
COL1A1
2 0.925 0.120 17 50198170 frameshift variant A/- del 0.700 0
dbSNP: rs1310067676
rs1310067676
COL1A2
1 1.000 0.120 7 94423024 missense variant A/G snv 4.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs780400029
rs780400029
COL5A1 ; LOC101448202
2 0.925 0.200 9 134835169 missense variant A/G snv 1.6E-04 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs1555222973
rs1555222973
CREB3L1
6 0.851 0.160 11 46312636 inframe deletion AAG/- delins 0.700 0
dbSNP: rs1567751388
rs1567751388
COL1A1
1 1.000 0.120 17 50185558 frameshift variant C/- del 0.700 0
dbSNP: rs193922167
rs193922167
COL1A2
1 1.000 0.120 7 94427639 frameshift variant C/- delins 0.700 0
dbSNP: rs1226770904
rs1226770904
P3H1
1 1.000 0.120 1 42747303 missense variant C/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1229356148
rs1229356148
PLOD2
1 1.000 0.120 3 146072579 missense variant C/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1567753448
rs1567753448
COL1A1
1 1.000 0.120 17 50187121 missense variant C/A snv 0.700 0
dbSNP: rs193922137
rs193922137
COL1A1
1 1.000 0.120 17 50195958 missense variant C/A snv 0.700 0
dbSNP: rs193922147
rs193922147
COL1A1
1 1.000 0.120 17 50190381 splice acceptor variant C/A;G snv 0.700 0
dbSNP: rs193922159
rs193922159
COL1A2
1 1.000 0.120 7 94410478 missense variant C/A;G snv 5.1E-05 0.700 0
dbSNP: rs66548636
rs66548636
COL1A1
2 0.925 0.120 17 50195469 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs67507747
rs67507747
COL1A1
5 0.827 0.160 17 50194032 missense variant C/A;G;T snv 0.710 1.000 1 2001 2001
dbSNP: rs67771061
rs67771061
COL1A1
2 0.925 0.120 17 50188776 missense variant C/A;G;T snv 0.010 1.000 1 1992 1992
dbSNP: rs67815019
rs67815019
COL1A1
2 0.925 0.120 17 50187041 missense variant C/A;T snv 0.700 1.000 2 2007 2016
dbSNP: rs66664580
rs66664580
COL1A1
2 0.925 0.120 17 50195967 missense variant C/A;T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs72656343
rs72656343
COL1A1
3 0.882 0.120 17 50186386 stop gained C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs72656351
rs72656351
COL1A1
2 1.000 0.120 17 50185576 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2002 2002
dbSNP: rs144751329
rs144751329
COL1A1
1 1.000 0.120 17 50194380 missense variant C/A;T snv 4.0E-06; 2.0E-04 0.700 0