Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs144751329
COL1A1
1.000 0.120 17 50194380 missense variant C/A;T snv 4.0E-06; 2.0E-04 1
rs1554397369
COL1A2
1.000 0.120 7 94418526 missense variant G/T snv 1
rs1555572125
COL1A1
1.000 0.120 17 50187975 frameshift variant T/- delins 1
rs1555572406
COL1A1
1.000 0.120 17 50189203 frameshift variant CT/- delins 1
rs1562906570
COL1A2
1.000 0.120 7 94424427 missense variant G/T snv 1
rs1567751388
COL1A1
1.000 0.120 17 50185558 frameshift variant C/- del 1
rs1567753448
COL1A1
1.000 0.120 17 50187121 missense variant C/A snv 1
rs1567761800
COL1A1
1.000 0.120 17 50196500 missense variant C/G snv 1
rs1567762262
COL1A1
1.000 0.120 17 50197012 frameshift variant GT/- delins 1
rs193922137
COL1A1
1.000 0.120 17 50195958 missense variant C/A snv 1
rs193922138
COL1A1
1.000 0.120 17 50195296 missense variant G/C snv 1
rs193922140
COL1A1
1.000 0.120 17 50194419 missense variant C/G snv 1
rs193922141
COL1A1
1.000 0.120 17 50194141 frameshift variant T/- delins 1
rs193922143
COL1A1
1.000 0.120 17 50193003 frameshift variant A/- del 1
rs193922144
COL1A1
1.000 0.120 17 50191853 stop gained G/A snv 1
rs193922145
COL1A1
1.000 0.120 17 50191457 stop gained G/A snv 1
rs193922147
COL1A1
1.000 0.120 17 50190381 splice acceptor variant C/A;G snv 1
rs193922148
COL1A1
1.000 0.120 17 50190360 frameshift variant A/- del 1
rs193922150
COL1A1
1.000 0.120 17 50189878 missense variant C/T snv 2.5E-05 1.1E-04 1
rs193922152
COL1A1
1.000 0.120 17 50189208 missense variant T/C snv 1
rs193922154
COL1A1
1.000 0.120 17 50199589 splice acceptor variant CT/- delins 1
rs193922155
COL1A1
1.000 0.120 17 50199329 splice acceptor variant T/C snv 1
rs193922157
COL1A1
1.000 0.120 17 50198459 stop gained C/A;T snv 8.0E-06 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