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: 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: rs1187611948
rs1187611948
TENT5A
2 0.925 0.120 6 81751762 missense variant T/C snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs137853892
rs137853892
SERPINH1
2 0.925 0.120 11 75566582 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs755253307
rs755253307
WNT1 ; WNT10B
2 0.925 0.120 12 48979482 missense variant T/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs193922152
rs193922152
COL1A1
1 1.000 0.120 17 50189208 missense variant T/C snv 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: rs1555572125
rs1555572125
COL1A1
1 1.000 0.120 17 50187975 frameshift variant T/- delins 0.700 0
dbSNP: rs193922141
rs193922141
COL1A1
1 1.000 0.120 17 50194141 frameshift variant T/- delins 0.700 0
dbSNP: rs193922175
rs193922175
COL1A2
1 1.000 0.120 7 94409374 inframe deletion GTG/- delins 0.700 0
dbSNP: rs1567762262
rs1567762262
COL1A1
1 1.000 0.120 17 50197012 frameshift variant GT/- delins 0.700 0
dbSNP: rs72651620
rs72651620
COL1A1
2 0.925 0.120 17 50192807 frameshift variant GGGG/-;GGG delins 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: rs121912906
rs121912906
COL1A2
2 0.925 0.120 7 94412593 missense variant G/T snv 0.010 1.000 1 1991 1991
dbSNP: rs1554397369
rs1554397369
COL1A2
1 1.000 0.120 7 94418526 missense variant G/T snv 0.700 0
dbSNP: rs1562906570
rs1562906570
COL1A2
1 1.000 0.120 7 94424427 missense variant G/T snv 0.700 0
dbSNP: rs318240762
rs318240762
BMP1
2 0.925 0.120 8 22165439 missense variant G/C snv 1.1E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs72658196
rs72658196
COL1A2
1 1.000 0.120 7 94423092 missense variant G/C snv 0.010 1.000 1 1990 1990
dbSNP: rs193922138
rs193922138
COL1A1
1 1.000 0.120 17 50195296 missense variant G/C snv 0.700 0
dbSNP: rs193922168
rs193922168
COL1A2
1 1.000 0.120 7 94427714 missense variant G/C snv 0.700 0
dbSNP: rs66612022
rs66612022
COL1A2
9 0.763 0.240 7 94409768 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs72656314
rs72656314
COL1A1
2 0.925 0.120 17 50187486 stop gained G/A;T snv 0.700 0
dbSNP: rs72658154
rs72658154
COL1A2
1 1.000 0.120 7 94418518 missense variant G/A;T snv 0.700 0
dbSNP: rs67865220
rs67865220
COL1A2
4 0.851 0.120 7 94409795 missense variant G/A;C;T snv 0.020 1.000 2 2016 2017
dbSNP: rs121918126
rs121918126
SLC6A2
5 0.925 0.160 16 55698005 missense variant G/A;C;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2003 2003