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: rs66773001
rs66773001
COL1A2
3 0.882 0.120 7 94410251 missense variant G/A;T snv 0.700 1.000 8 1991 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: rs67525025
rs67525025
COL1A2
3 0.882 0.120 7 94408798 missense variant G/A;T snv 0.700 1.000 6 1993 2009
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: 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: rs1559085564
rs1559085564
COL5A2
1 1.000 2 189062909 missense variant C/T snv 0.700 1.000 5 1993 2013
dbSNP: rs1562900513
rs1562900513
COL1A2
2 0.925 0.120 7 94408780 missense variant G/T snv 0.700 1.000 5 1993 2009
dbSNP: rs1562907190
rs1562907190
COL1A2
2 0.925 0.120 7 94425858 splice donor variant G/C snv 0.700 1.000 5 1984 2017
dbSNP: rs72656375
rs72656375
COL1A2
2 0.925 0.120 7 94407845 splice acceptor variant A/G snv 0.700 1.000 5 1984 2017
dbSNP: rs72659325
rs72659325
COL1A2
3 0.882 0.120 7 94427008 missense variant G/C;T snv 0.700 1.000 5 1993 2009
dbSNP: rs1559104199
rs1559104199
COL5A2
1 1.000 2 189100106 splice donor variant C/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1564455577
rs1564455577
COL5A1
1 1.000 9 134782721 splice donor variant G/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1564478485
rs1564478485
COL5A1
1 1.000 9 134815934 splice acceptor variant G/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1564482508
rs1564482508
COL5A1 ; LOC101448202
1 1.000 9 134820224 splice donor variant G/C snv 0.700 1.000 1 2013 2013
dbSNP: rs777625241
rs777625241
COL5A1
1 1.000 9 134700037 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1131691820
rs1131691820
COL5A1
1 1.000 9 134817028 frameshift variant -/T delins 0.700 0
dbSNP: rs1186550791
rs1186550791
COL5A2
1 1.000 2 189051364 missense variant C/G snv 0.700 0
dbSNP: rs121912930
rs121912930
COL5A2
1 1.000 2 189043177 missense variant C/G snv 0.700 0
dbSNP: rs1553512393
rs1553512393
COL5A2
1 1.000 2 189034971 frameshift variant A/- del 0.700 0
dbSNP: rs1553513971
rs1553513971
COL5A2
1 1.000 2 189048264 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1553514506
rs1553514506
COL5A2
1 1.000 2 189053422 splice donor variant A/- del 0.700 0
dbSNP: rs1553515517
rs1553515517
COL5A2
1 1.000 2 189065000 splice region variant T/C snv 0.700 0