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: rs193922157
rs193922157
COL1A1
1 1.000 0.120 17 50198459 stop gained C/A;T snv 8.0E-06 0.700 0
dbSNP: rs1567761800
rs1567761800
COL1A1
1 1.000 0.120 17 50196500 missense variant C/G snv 0.700 0
dbSNP: rs193922140
rs193922140
COL1A1
1 1.000 0.120 17 50194419 missense variant C/G snv 0.700 0
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: rs72645328
rs72645328
COL1A1
3 0.882 0.120 17 50196670 missense variant C/G;T snv 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: 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: rs193922139
rs193922139
COL1A1
2 0.925 0.120 17 50195227 splice region variant C/T snv 0.700 1.000 1 2015 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: 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: rs72656338
rs72656338
COL1A1
2 0.925 0.120 17 50186799 missense variant C/T snv 0.010 1.000 1 2011 2011
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: rs193922150
rs193922150
COL1A1
1 1.000 0.120 17 50189878 missense variant C/T snv 2.5E-05 1.1E-04 0.700 0
dbSNP: rs72645323
rs72645323
COL1A1
2 0.925 0.120 17 50197027 missense variant C/T snv 0.700 0
dbSNP: rs72645357
rs72645357
COL1A1
8 0.776 0.240 17 50196163 missense variant C/T snv 0.700 0
dbSNP: rs72648320
rs72648320
COL1A1
1 1.000 0.120 17 50195433 splice donor variant C/T snv 0.700 0
dbSNP: rs72651647
rs72651647
COL1A1
2 0.925 0.120 17 50191454 missense variant C/T snv 0.700 0
dbSNP: rs1555572406
rs1555572406
COL1A1
1 1.000 0.120 17 50189203 frameshift variant CT/- delins 0.700 0
dbSNP: rs193922154
rs193922154
COL1A1
1 1.000 0.120 17 50199589 splice acceptor variant CT/- delins 0.700 0
dbSNP: rs193922149
rs193922149
COL1A1
2 0.925 0.120 17 50190328 frameshift variant G/- delins 0.700 0
dbSNP: rs786201032
rs786201032
IFITM5
4 0.925 0.120 11 299372 missense variant G/A snv 0.020 1.000 2 2016 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: rs121912910
rs121912910
COL1A2
2 0.925 0.120 7 94413083 missense variant G/A snv 0.010 1.000 1 1994 1994
dbSNP: rs1277989297
rs1277989297
FN1
2 0.925 0.200 2 215428270 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs141053928
rs141053928
SEC23A
1 1.000 0.120 14 39055285 missense variant G/A snv 0.010 1.000 1 2019 2019