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: rs67865220
rs67865220
COL1A2
4 0.851 0.120 7 94409795 missense variant G/A;C;T snv 0.700 1.000 16 1993 2017
dbSNP: rs72659310
rs72659310
COL1A2
3 0.882 0.120 7 94425664 splice donor variant G/A snv 0.700 1.000 11 1984 2018
dbSNP: rs72658118
rs72658118
COL1A2
3 0.882 0.120 7 94412095 missense variant G/A snv 0.700 1.000 10 1993 2016
dbSNP: rs72659319
rs72659319
COL1A2
9 0.763 0.240 7 94426459 missense variant G/A;C snv 0.700 1.000 10 1993 2016
dbSNP: rs66619856
rs66619856
COL1A2
3 0.882 0.120 7 94410278 missense variant G/A;T snv 0.700 1.000 9 1993 2018
dbSNP: rs66773001
rs66773001
COL1A2
3 0.882 0.120 7 94410251 missense variant G/A;T snv 0.700 1.000 8 1991 2016
dbSNP: rs72656387
rs72656387
COL1A2
3 0.882 0.120 7 94409367 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 8 1993 2017
dbSNP: rs72658185
rs72658185
COL1A2
2 0.925 0.120 7 94421027 missense variant G/A snv 0.700 1.000 8 1993 2016
dbSNP: rs1562905246
rs1562905246
COL1A2
2 0.925 0.120 7 94420595 missense variant G/A snv 0.700 1.000 7 1993 2014
dbSNP: rs72656355
rs72656355
COL1A2
3 0.882 0.200 7 94401565 splice acceptor variant A/G snv 0.700 1.000 7 1984 2017
dbSNP: rs1554396361
rs1554396361
COL1A2
2 0.925 0.120 7 94411128 missense variant G/A snv 0.700 1.000 6 1993 2011
dbSNP: rs1554396679
rs1554396679
COL1A2
2 0.925 0.120 7 94413092 missense variant G/A snv 0.700 1.000 6 1993 2009
dbSNP: rs1554396832
rs1554396832
COL1A2
2 0.925 0.120 7 94414222 missense variant G/A;T snv 0.700 1.000 6 1993 2015
dbSNP: rs1554397975
rs1554397975
COL1A2
2 0.925 0.120 7 94422994 missense variant G/A snv 0.700 1.000 6 1993 2016
dbSNP: rs67525025
rs67525025
COL1A2
3 0.882 0.120 7 94408798 missense variant G/A;T snv 0.700 1.000 6 1993 2009
dbSNP: rs72656360
rs72656360
COL1A2
2 0.925 0.120 7 94404849 missense variant G/A;T snv 7.0E-06 0.700 1.000 6 1993 2014
dbSNP: rs72658177
rs72658177
COL1A2
3 0.882 0.120 7 94420613 missense variant G/T snv 0.700 1.000 6 1993 2009
dbSNP: rs72658194
rs72658194
COL1A2
2 0.925 0.120 7 94423074 missense variant G/A snv 0.700 1.000 6 1993 2009
dbSNP: rs1410254723
rs1410254723
COL1A2
2 0.925 0.120 7 94404574 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 5 1993 2009
dbSNP: rs1554395431
rs1554395431
COL1A2
2 0.925 0.120 7 94404893 splice donor variant G/A snv 0.700 1.000 5 1984 2017
dbSNP: rs1554395471
rs1554395471
COL1A2
3 0.882 0.120 7 94405197 splice acceptor variant A/C;G snv 0.700 1.000 5 1984 2017
dbSNP: rs1554396271
rs1554396271
COL1A2
3 0.925 0.120 7 94410899 missense variant G/A;T snv 0.700 1.000 5 1993 2009
dbSNP: rs1554396680
rs1554396680
COL1A2
2 0.925 0.120 7 94413093 missense variant G/C snv 0.700 1.000 5 1993 2009
dbSNP: rs1562899031
rs1562899031
COL1A2
2 0.925 0.120 7 94404858 missense variant G/T snv 0.700 1.000 5 1993 2009
dbSNP: rs1562900513
rs1562900513
COL1A2
2 0.925 0.120 7 94408780 missense variant G/T snv 0.700 1.000 5 1993 2009