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: 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: 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: rs1277989297
rs1277989297
FN1
2 0.925 0.200 2 215428270 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs318240762
rs318240762
BMP1
2 0.925 0.120 8 22165439 missense variant G/C snv 1.1E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs786201032
rs786201032
IFITM5
4 0.925 0.120 11 299372 missense variant G/A snv 0.020 1.000 2 2016 2018
dbSNP: rs965718917
rs965718917
DMD
1 1.000 0.120 X 31496826 missense variant C/T snv 1.6E-05 9.4E-06 0.010 1.000 1 2011 2011
dbSNP: rs121907917
rs121907917
PAX6
6 0.807 0.240 11 31794079 stop gained G/A snv 0.010 1.000 1 2016 2016
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: rs373772486
rs373772486
TGM2
1 1.000 0.120 20 38147984 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 1991 1991
dbSNP: rs141053928
rs141053928
SEC23A
1 1.000 0.120 14 39055285 missense variant G/A snv 0.010 1.000 1 2019 2019
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: rs761033636
rs761033636
P3H1 ; C1orf50
1 1.000 0.120 1 42766971 start lost T/C;G snv 4.3E-06 0.010 1.000 1 2018 2018
dbSNP: rs1555222973
rs1555222973
CREB3L1
6 0.851 0.160 11 46312636 inframe deletion AAG/- delins 0.700 0
dbSNP: rs755253307
rs755253307
WNT1 ; WNT10B
2 0.925 0.120 12 48979482 missense variant T/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs1567751388
rs1567751388
COL1A1
1 1.000 0.120 17 50185558 frameshift variant C/- del 0.700 0
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: rs72656343
rs72656343
COL1A1
3 0.882 0.120 17 50186386 stop gained C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs72656338
rs72656338
COL1A1
2 0.925 0.120 17 50186799 missense variant C/T snv 0.010 1.000 1 2011 2011
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: rs1567753448
rs1567753448
COL1A1
1 1.000 0.120 17 50187121 missense variant C/A snv 0.700 0
dbSNP: rs72656314
rs72656314
COL1A1
2 0.925 0.120 17 50187486 stop gained G/A;T snv 0.700 0
dbSNP: rs1260429820
rs1260429820
COL1A1
1 1.000 0.120 17 50187885 frameshift variant A/- del 0.010 1.000 1 2006 2006
dbSNP: rs1555572125
rs1555572125
COL1A1
1 1.000 0.120 17 50187975 frameshift variant T/- delins 0.700 0
dbSNP: rs72654802
rs72654802
COL1A1
3 0.882 0.120 17 50188122 missense variant C/T snv 0.020 1.000 2 2011 2012
dbSNP: rs72654799
rs72654799
COL1A1
3 0.882 0.200 17 50188541 missense variant G/A;C snv 6.4E-05 0.010 1.000 1 2007 2007