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: rs144751329
rs144751329
COL1A1
1 1.000 0.120 17 50194380 missense variant C/A;T snv 4.0E-06; 2.0E-04 0.700 0
dbSNP: rs1554397369
rs1554397369
COL1A2
1 1.000 0.120 7 94418526 missense variant G/T snv 0.700 0
dbSNP: rs1555222973
rs1555222973
CREB3L1
6 0.851 0.160 11 46312636 inframe deletion AAG/- delins 0.700 0
dbSNP: rs1555572125
rs1555572125
COL1A1
1 1.000 0.120 17 50187975 frameshift variant T/- delins 0.700 0
dbSNP: rs1555572406
rs1555572406
COL1A1
1 1.000 0.120 17 50189203 frameshift variant CT/- delins 0.700 0
dbSNP: rs1562906570
rs1562906570
COL1A2
1 1.000 0.120 7 94424427 missense variant G/T snv 0.700 0
dbSNP: rs1567751388
rs1567751388
COL1A1
1 1.000 0.120 17 50185558 frameshift variant C/- del 0.700 0
dbSNP: rs1567753448
rs1567753448
COL1A1
1 1.000 0.120 17 50187121 missense variant C/A snv 0.700 0
dbSNP: rs1567761800
rs1567761800
COL1A1
1 1.000 0.120 17 50196500 missense variant C/G snv 0.700 0
dbSNP: rs1567762262
rs1567762262
COL1A1
1 1.000 0.120 17 50197012 frameshift variant GT/- delins 0.700 0
dbSNP: rs193922137
rs193922137
COL1A1
1 1.000 0.120 17 50195958 missense variant C/A snv 0.700 0
dbSNP: rs193922138
rs193922138
COL1A1
1 1.000 0.120 17 50195296 missense variant G/C snv 0.700 0
dbSNP: rs193922140
rs193922140
COL1A1
1 1.000 0.120 17 50194419 missense variant C/G snv 0.700 0
dbSNP: rs193922141
rs193922141
COL1A1
1 1.000 0.120 17 50194141 frameshift variant T/- delins 0.700 0
dbSNP: rs193922143
rs193922143
COL1A1
1 1.000 0.120 17 50193003 frameshift variant A/- del 0.700 0
dbSNP: rs193922144
rs193922144
COL1A1
1 1.000 0.120 17 50191853 stop gained G/A snv 0.700 0
dbSNP: rs193922145
rs193922145
COL1A1
1 1.000 0.120 17 50191457 stop gained G/A snv 0.700 0
dbSNP: rs193922147
rs193922147
COL1A1
1 1.000 0.120 17 50190381 splice acceptor variant C/A;G snv 0.700 0
dbSNP: rs193922148
rs193922148
COL1A1
1 1.000 0.120 17 50190360 frameshift variant A/- del 0.700 0
dbSNP: rs193922149
rs193922149
COL1A1
2 0.925 0.120 17 50190328 frameshift variant G/- delins 0.700 0
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: rs193922151
rs193922151
COL1A1
2 0.925 0.120 17 50189521 frameshift variant A/- del 0.700 0
dbSNP: rs193922152
rs193922152
COL1A1
1 1.000 0.120 17 50189208 missense variant T/C snv 0.700 0
dbSNP: rs193922154
rs193922154
COL1A1
1 1.000 0.120 17 50199589 splice acceptor variant CT/- delins 0.700 0
dbSNP: rs193922155
rs193922155
COL1A1
1 1.000 0.120 17 50199329 splice acceptor variant T/C snv 0.700 0