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: rs1555222973
rs1555222973
CREB3L1
6 0.851 0.160 11 46312636 inframe deletion AAG/- delins 0.700 0
dbSNP: rs193922175
rs193922175
COL1A2
1 1.000 0.120 7 94409374 inframe deletion GTG/- delins 0.700 0
dbSNP: rs761033636
rs761033636
P3H1 ; C1orf50
1 1.000 0.120 1 42766971 start lost T/C;G snv 4.3E-06 0.010 1.000 1 2018 2018
dbSNP: rs193922139
rs193922139
COL1A1
2 0.925 0.120 17 50195227 splice region variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs193922147
rs193922147
COL1A1
1 1.000 0.120 17 50190381 splice acceptor variant C/A;G 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
dbSNP: rs193922158
rs193922158
COL1A1
2 0.925 0.120 17 50197065 splice acceptor variant T/C snv 0.700 0
dbSNP: rs193922166
rs193922166
COL1A2
1 1.000 0.120 7 94427004 splice acceptor variant A/- delins 0.700 0
dbSNP: rs1260429820
rs1260429820
COL1A1
1 1.000 0.120 17 50187885 frameshift variant A/- del 0.010 1.000 1 2006 2006
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: rs1567751388
rs1567751388
COL1A1
1 1.000 0.120 17 50185558 frameshift variant C/- del 0.700 0
dbSNP: rs1567762262
rs1567762262
COL1A1
1 1.000 0.120 17 50197012 frameshift variant GT/- delins 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: 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: rs193922151
rs193922151
COL1A1
2 0.925 0.120 17 50189521 frameshift variant A/- del 0.700 0
dbSNP: rs193922167
rs193922167
COL1A2
1 1.000 0.120 7 94427639 frameshift variant C/- delins 0.700 0
dbSNP: rs72651620
rs72651620
COL1A1
2 0.925 0.120 17 50192807 frameshift variant GGGG/-;GGG delins 0.700 0
dbSNP: rs72667023
rs72667023
COL1A1
2 0.925 0.120 17 50198170 frameshift variant A/- del 0.700 0
dbSNP: rs72648320
rs72648320
COL1A1
1 1.000 0.120 17 50195433 splice donor variant C/T snv 0.700 0
dbSNP: rs121912905
rs121912905
COL1A2
2 0.925 0.120 7 94408806 missense variant G/T snv 0.020 1.000 2 1991 1992
dbSNP: rs67815019
rs67815019
COL1A1
2 0.925 0.120 17 50187041 missense variant C/A;T snv 0.700 1.000 2 2007 2016