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: rs1044293062
rs1044293062
CRTAP
1 1.000 0.120 3 33114388 missense variant C/T snv 7.7E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs1187611948
rs1187611948
TENT5A
2 0.925 0.120 6 81751762 missense variant T/C snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs121907917
rs121907917
PAX6
6 0.807 0.240 11 31794079 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs121912905
rs121912905
COL1A2
2 0.925 0.120 7 94408806 missense variant G/T snv 0.020 1.000 2 1991 1992
dbSNP: rs121912906
rs121912906
COL1A2
2 0.925 0.120 7 94412593 missense variant G/T snv 0.010 1.000 1 1991 1991
dbSNP: rs121912910
rs121912910
COL1A2
2 0.925 0.120 7 94413083 missense variant G/A snv 0.010 1.000 1 1994 1994
dbSNP: rs121918126
rs121918126
SLC6A2
5 0.925 0.160 16 55698005 missense variant G/A;C;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2003 2003
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: rs1260429820
rs1260429820
COL1A1
1 1.000 0.120 17 50187885 frameshift variant A/- del 0.010 1.000 1 2006 2006
dbSNP: rs1277989297
rs1277989297
FN1
2 0.925 0.200 2 215428270 stop gained G/A snv 0.010 1.000 1 2016 2016
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: rs137853892
rs137853892
SERPINH1
2 0.925 0.120 11 75566582 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs141053928
rs141053928
SEC23A
1 1.000 0.120 14 39055285 missense variant G/A snv 0.010 1.000 1 2019 2019
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
dbSNP: rs1554397369
rs1554397369
COL1A2
1 1.000 0.120 7 94418526 missense variant G/T snv 0.700 0
dbSNP: rs1555222973
rs1555222973
CREB3L1
6 0.851 0.160 11 46312636 inframe deletion AAG/- delins 0.700 0
dbSNP: rs1555572125
rs1555572125
COL1A1
1 1.000 0.120 17 50187975 frameshift variant T/- delins 0.700 0
dbSNP: rs1555572406
rs1555572406
COL1A1
1 1.000 0.120 17 50189203 frameshift variant CT/- delins 0.700 0
dbSNP: rs1562906570
rs1562906570
COL1A2
1 1.000 0.120 7 94424427 missense variant G/T snv 0.700 0
dbSNP: rs1567751388
rs1567751388
COL1A1
1 1.000 0.120 17 50185558 frameshift variant C/- del 0.700 0
dbSNP: rs1567753448
rs1567753448
COL1A1
1 1.000 0.120 17 50187121 missense variant C/A snv 0.700 0
dbSNP: rs1567761800
rs1567761800
COL1A1
1 1.000 0.120 17 50196500 missense variant C/G snv 0.700 0
dbSNP: rs1567762262
rs1567762262
COL1A1
1 1.000 0.120 17 50197012 frameshift variant GT/- delins 0.700 0
dbSNP: rs193922137
rs193922137
COL1A1
1 1.000 0.120 17 50195958 missense variant C/A snv 0.700 0