Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs66612022
COL1A2
0.763 0.240 7 94409768 missense variant G/A;T snv 8
rs1555222973
CREB3L1
0.851 0.160 11 46312636 inframe deletion AAG/- delins 6
rs67507747
COL1A1
0.827 0.160 17 50194032 missense variant C/A;G;T snv 4
rs67865220
COL1A2
0.851 0.120 7 94409795 missense variant G/A;C;T snv 3
rs72656387
COL1A2
0.882 0.120 7 94409367 missense variant G/A snv 8.0E-06 7.0E-06 3
rs121907917
PAX6
0.807 0.240 11 31794079 stop gained G/A snv 3
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
rs67815019
COL1A1
0.925 0.120 17 50187041 missense variant C/A;T snv 2
rs72645323
COL1A1
0.925 0.120 17 50197027 missense variant C/T snv 2
rs72645328
COL1A1
0.882 0.120 17 50196670 missense variant C/G;T snv 2
rs72651620
COL1A1
0.925 0.120 17 50192807 frameshift variant GGGG/-;GGG delins 2
rs72651647
COL1A1
0.925 0.120 17 50191454 missense variant C/T snv 2
rs72651658
COL1A1
0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06 2
rs72653173
COL1A1
0.925 0.120 17 50188765 stop gained G/A;C snv 4.0E-06 2
rs72654802
COL1A1
0.882 0.120 17 50188122 missense variant C/T snv 2
rs72656314
COL1A1
0.925 0.120 17 50187486 stop gained G/A;T snv 2
rs72656343
COL1A1
0.882 0.120 17 50186386 stop gained C/A;T snv 2
rs72667023
COL1A1
0.925 0.120 17 50198170 frameshift variant A/- del 2
rs72656392
COL1A2
0.882 0.120 7 94409732 missense variant G/A;C snv 2
rs72658176
COL1A2
0.882 0.120 7 94420604 missense variant G/A snv 4.1E-06 2