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: rs72645315
rs72645315
COL1A1
2 0.925 0.120 17 50197205 missense variant C/T snv 0.010 1.000 1 1995 1995
dbSNP: rs72645318
rs72645318
COL1A1
3 0.882 0.200 17 50197057 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs72651658
rs72651658
COL1A1
5 0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
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
dbSNP: rs72656338
rs72656338
COL1A1
2 0.925 0.120 17 50186799 missense variant C/T snv 0.010 1.000 1 2011 2011
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: rs72656392
rs72656392
COL1A2
3 0.882 0.120 7 94409732 missense variant G/A;C snv 0.010 1.000 1 1994 1994
dbSNP: rs72658176
rs72658176
COL1A2
3 0.882 0.120 7 94420604 missense variant G/A snv 4.1E-06 0.010 1.000 1 1997 1997
dbSNP: rs72658196
rs72658196
COL1A2
1 1.000 0.120 7 94423092 missense variant G/C snv 0.010 1.000 1 1990 1990
dbSNP: rs72659306
rs72659306
COL1A2
1 1.000 0.120 7 94425144 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 1992 1992
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: 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: 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: rs886440452
rs886440452
COL1A1
2 0.925 0.200 17 50189478 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2007 2007
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: 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: rs1562906570
rs1562906570
COL1A2
1 1.000 0.120 7 94424427 missense variant G/T snv 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: rs193922137
rs193922137
COL1A1
1 1.000 0.120 17 50195958 missense variant C/A snv 0.700 0
dbSNP: rs193922138
rs193922138
COL1A1
1 1.000 0.120 17 50195296 missense variant G/C snv 0.700 0
dbSNP: rs193922140
rs193922140
COL1A1
1 1.000 0.120 17 50194419 missense variant C/G snv 0.700 0
dbSNP: rs193922144
rs193922144
COL1A1
1 1.000 0.120 17 50191853 stop gained G/A snv 0.700 0