Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1226770904
P3H1
1.000 0.120 1 42747303 missense variant C/A snv 4.0E-06 1
rs761033636
P3H1 ; C1orf50
1.000 0.120 1 42766971 start lost T/C;G snv 4.3E-06 1
rs1277989297
FN1
0.925 0.200 2 215428270 stop gained G/A snv 2
rs1044293062
CRTAP
1.000 0.120 3 33114388 missense variant C/T snv 7.7E-06 1.4E-05 1
rs1229356148
PLOD2
1.000 0.120 3 146072579 missense variant C/A snv 7.0E-06 1
rs1187611948
TENT5A
0.925 0.120 6 81751762 missense variant T/C snv 4.1E-06 2
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
rs67865220
COL1A2
0.851 0.120 7 94409795 missense variant G/A;C;T snv 4
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
rs121912905
COL1A2
0.925 0.120 7 94408806 missense variant G/T snv 2
rs121912906
COL1A2
0.925 0.120 7 94412593 missense variant G/T snv 2
rs121912910
COL1A2
0.925 0.120 7 94413083 missense variant G/A snv 2
rs72658193
COL1A2
0.925 0.120 7 94423056 missense variant G/A snv 2
rs72659305
COL1A2
0.925 0.120 7 94425127 missense variant G/A snv 2
rs1310067676
COL1A2
1.000 0.120 7 94423024 missense variant A/G snv 4.0E-06 1
rs1554397369
COL1A2
1.000 0.120 7 94418526 missense variant G/T snv 1
rs1562906570
COL1A2
1.000 0.120 7 94424427 missense variant G/T snv 1
rs193922159
COL1A2
1.000 0.120 7 94410478 missense variant C/A;G snv 5.1E-05 1
rs193922162
COL1A2
1.000 0.120 7 94417733 missense variant G/A snv 1
rs193922165
COL1A2
1.000 0.120 7 94425655 missense variant G/A snv 1
rs193922166
COL1A2
1.000 0.120 7 94427004 splice acceptor variant A/- delins 1
rs193922167
COL1A2
1.000 0.120 7 94427639 frameshift variant C/- delins 1