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: 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
dbSNP: rs1559085578
rs1559085578
COL5A2
1 1.000 2 189062922 splice region variant G/C snv 0.700 0
dbSNP: rs1562900123
rs1562900123
COL1A2
2 0.925 0.120 7 94407890 splice donor variant CAGTAAGT/- del 0.700 0
dbSNP: rs1564446117
rs1564446117
COL5A1
1 1.000 9 134767030 stop gained C/T snv 0.700 0
dbSNP: rs1564453833
rs1564453833
COL5A1
1 1.000 9 134780101 coding sequence variant G/- delins 0.700 0
dbSNP: rs1564457102
rs1564457102
COL5A1
1 1.000 9 134785066 frameshift variant C/- delins 0.700 0
dbSNP: rs1564471440
rs1564471440
COL5A1
1 1.000 9 134806238 frameshift variant -/TCCAGGGAGACCTGGGC delins 0.700 0
dbSNP: rs1564475090
rs1564475090
COL5A1
1 1.000 9 134811590 frameshift variant G/- delins 0.700 0
dbSNP: rs1564487306
rs1564487306
COL5A1 ; LOC101448202
1 1.000 9 134824808 frameshift variant C/- delins 0.700 0
dbSNP: rs72645347
rs72645347
COL1A1
10 0.790 0.280 17 50196337 missense variant G/A snv 0.700 0
dbSNP: rs786205103
rs786205103
COL5A2
1 1.000 2 189062914 splice acceptor variant GCTCCCT/- del 0.700 0
dbSNP: rs786205104
rs786205104
COL5A2
1 1.000 2 189061561 splice donor variant C/A snv 0.700 0
dbSNP: rs80338764
rs80338764
COL5A1 ; LOC101448202
2 0.925 9 134824817 missense variant G/C snv 0.700 0
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: 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: rs1562900513
rs1562900513
COL1A2
2 0.925 0.120 7 94408780 missense variant G/T snv 0.700 1.000 5 1993 2009