Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs66612022
COL1A2
0.763 0.240 7 94409768 missense variant G/A;T snv 9
rs72659319
COL1A2
0.763 0.240 7 94426459 missense variant G/A;C snv 9
rs72645357
COL1A1
0.776 0.240 17 50196163 missense variant C/T snv 8
rs1555222973
CREB3L1
0.851 0.160 11 46312636 inframe deletion AAG/- delins 6
rs121907917
PAX6
0.807 0.240 11 31794079 stop gained G/A snv 6
rs67507747
COL1A1
0.827 0.160 17 50194032 missense variant C/A;G;T snv 5
rs72651658
COL1A1
0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06 5
rs121918126
SLC6A2
0.925 0.160 16 55698005 missense variant G/A;C;T snv 8.0E-06; 4.0E-06 5
rs67865220
COL1A2
0.851 0.120 7 94409795 missense variant G/A;C;T snv 4
rs786201032
IFITM5
0.925 0.120 11 299372 missense variant G/A snv 4
rs72645318
COL1A1
0.882 0.200 17 50197057 stop gained G/A snv 3
rs72645328
COL1A1
0.882 0.120 17 50196670 missense variant C/G;T snv 3
rs72654799
COL1A1
0.882 0.200 17 50188541 missense variant G/A;C snv 6.4E-05 3
rs72654802
COL1A1
0.882 0.120 17 50188122 missense variant C/T snv 3
rs72656343
COL1A1
0.882 0.120 17 50186386 stop gained C/A;T snv 3
rs72656387
COL1A2
0.882 0.120 7 94409367 missense variant G/A snv 8.0E-06 7.0E-06 3
rs72656392
COL1A2
0.882 0.120 7 94409732 missense variant G/A;C snv 3
rs72658176
COL1A2
0.882 0.120 7 94420604 missense variant G/A snv 4.1E-06 3
rs318240762
BMP1
0.925 0.120 8 22165439 missense variant G/C snv 1.1E-05 7.0E-06 2
rs193922139
COL1A1
0.925 0.120 17 50195227 splice region variant C/T snv 2
rs193922149
COL1A1
0.925 0.120 17 50190328 frameshift variant G/- delins 2
rs193922151
COL1A1
0.925 0.120 17 50189521 frameshift variant A/- del 2
rs193922158
COL1A1
0.925 0.120 17 50197065 splice acceptor variant T/C snv 2
rs66548636
COL1A1
0.925 0.120 17 50195469 missense variant C/A;G;T snv 2
rs66664580
COL1A1
0.925 0.120 17 50195967 missense variant C/A;T snv 7.0E-06 2