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: rs72656353
rs72656353
COL1A1
1 1.000 0.120 17 50185506 missense variant A/G snv 0.700 0
dbSNP: rs72656402
rs72656402
COL1A2
1 1.000 0.120 7 94410429 missense variant G/T snv 0.700 0
dbSNP: rs72658118
rs72658118
COL1A2
3 0.882 0.120 7 94412095 missense variant G/A snv 0.700 0
dbSNP: rs72658126
rs72658126
COL1A2
1 1.000 0.120 7 94413128 missense variant G/C snv 0.700 0
dbSNP: rs72658176
rs72658176
COL1A2
3 0.882 0.120 7 94420604 missense variant G/A snv 4.1E-06 0.700 0
dbSNP: rs72658200
rs72658200
COL1A2
1 1.000 0.120 7 94424345 missense variant G/A snv 0.700 0
dbSNP: rs72659304
rs72659304
COL1A2
2 0.925 0.120 7 94425118 missense variant G/A snv 0.700 0
dbSNP: rs72659312
rs72659312
COL1A2
1 1.000 0.120 7 94425759 missense variant G/A snv 0.700 0
dbSNP: rs72659316
rs72659316
COL1A2
1 1.000 0.120 7 94426026 missense variant G/T snv 0.700 0
dbSNP: rs72659319
rs72659319
COL1A2
9 0.763 0.240 7 94426459 missense variant G/A;C snv 0.700 0
dbSNP: rs72659335
rs72659335
COL1A2
3 0.882 0.120 7 94427288 missense variant G/A;T snv 0.700 0
dbSNP: rs72659337
rs72659337
COL1A2
1 1.000 0.120 7 94427646 missense variant G/C snv 0.700 0
dbSNP: rs72659338
rs72659338
COL1A2
1 1.000 0.120 7 94427654 missense variant G/A snv 0.700 0
dbSNP: rs72659345
rs72659345
COL1A2
1 1.000 0.120 7 94430291 frameshift variant ATAA/- delins 0.700 0
dbSNP: rs72667031
rs72667031
COL1A1
2 0.925 0.120 17 50197983 missense variant C/A snv 0.700 0
dbSNP: rs768171831
rs768171831
COL1A2
3 0.882 0.120 7 94426011 missense variant C/T snv 1.2E-04; 4.0E-06 5.6E-05 0.700 0
dbSNP: rs121912911
rs121912911
COL1A2
2 0.925 0.200 7 94426442 missense variant G/C snv 0.710 1.000 1 1996 1996
dbSNP: rs72658125
rs72658125
COL1A2
1 1.000 0.120 7 94413110 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs66773001
rs66773001
COL1A2
3 0.882 0.120 7 94410251 missense variant G/A;T snv 0.700 1.000 15 1991 2006
dbSNP: rs66883877
rs66883877
COL1A2
3 0.882 0.160 7 94419499 missense variant G/A;C;T snv 4.0E-06 1.4E-05 0.700 1.000 15 1991 2006
dbSNP: rs72658186
rs72658186
COL1A2
1 1.000 0.120 7 94421045 missense variant G/A snv 0.700 1.000 15 1991 2006
dbSNP: rs72658191
rs72658191
COL1A2
1 1.000 0.120 7 94423011 missense variant G/A snv 0.700 1.000 15 1991 2006
dbSNP: rs67641695
rs67641695
COL1A1
1 1.000 0.120 17 50188592 missense variant C/T snv 0.700 1.000 15 1989 2008
dbSNP: rs72645357
rs72645357
COL1A1
8 0.776 0.240 17 50196163 missense variant C/T snv 0.800 1.000 15 1989 2008
dbSNP: rs72645363
rs72645363
COL1A1
1 1.000 0.120 17 50195931 missense variant C/G snv 0.700 1.000 15 1989 2008