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: rs80338764
rs80338764
COL5A1 ; LOC101448202
2 0.925 9 134824817 missense variant G/C snv 0.800 1.000 5 1997 2009
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: 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: 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: 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: 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: rs1562899031
rs1562899031
COL1A2
2 0.925 0.120 7 94404858 missense variant G/T snv 0.700 1.000 5 1993 2009
dbSNP: rs67543427
rs67543427
COL1A2
8 0.776 0.240 7 94410457 missense variant G/A;T snv 0.700 1.000 5 1993 2009
dbSNP: rs72658129
rs72658129
COL1A2
2 0.925 0.120 7 94413708 missense variant G/A snv 0.700 1.000 5 1993 2009
dbSNP: rs863223458
rs863223458
COL5A1 ; LOC101448202
1 1.000 9 134820143 missense variant G/A snv 0.700 1.000 5 1993 2013
dbSNP: rs66612022
rs66612022
COL1A2
9 0.763 0.240 7 94409768 missense variant G/A;T snv 0.700 1.000 4 1995 2012
dbSNP: rs72656370
rs72656370
COL1A2
3 0.882 0.120 7 94406286 missense variant G/A snv 4.0E-06 0.700 1.000 4 2006 2015
dbSNP: rs72645347
rs72645347
COL1A1
10 0.790 0.280 17 50196337 missense variant G/A snv 0.700 1.000 2 2000 2007
dbSNP: rs764693725
rs764693725
COL5A1
1 1.000 9 134801983 frameshift variant C/-;CC delins 0.700 1.000 2 2012 2013
dbSNP: rs1553513657
rs1553513657
COL5A2
1 1.000 2 189045799 splice donor variant C/T snv 0.700 1.000 1 2013 2013