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: rs1057521106
rs1057521106
COL3A1
1 1.000 0.160 2 188991016 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1057524653
rs1057524653
COL3A1 ; MIR3606
1 1.000 0.160 2 188995074 missense variant G/A;C snv 0.700 0
dbSNP: rs1060500187
rs1060500187
COL3A1
1 1.000 0.160 2 189010187 stop gained G/A snv 0.700 0
dbSNP: rs1060500193
rs1060500193
COL3A1
1 1.000 0.160 2 189001425 missense variant G/A snv 0.700 0
dbSNP: rs1060500199
rs1060500199
COL3A1 ; MIR3606
1 1.000 0.160 2 188996167 frameshift variant C/- delins 0.700 0
dbSNP: rs1060500200
rs1060500200
COL3A1 ; LOC105373791
1 1.000 0.160 2 188984761 frameshift variant T/- del 0.700 0
dbSNP: rs1060500203
rs1060500203
COL3A1
1 1.000 0.160 2 189007501 missense variant G/T snv 0.700 0
dbSNP: rs1060500204
rs1060500204
COL3A1 ; MIR3606
1 1.000 0.160 2 188994540 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1085307896
rs1085307896
COL3A1
1 1.000 0.160 2 189004072 missense variant G/A snv 0.700 0
dbSNP: rs112371422
rs112371422
COL3A1
1 1.000 0.160 2 189007569 stop gained C/G;T snv 8.0E-05 0.700 0
dbSNP: rs112978464
rs112978464
COL3A1
1 1.000 0.160 2 189004136 missense variant G/A snv 0.700 0
dbSNP: rs113871730
rs113871730
COL3A1
1 1.000 0.160 2 188991697 missense variant G/A snv 0.700 0
dbSNP: rs1553507265
rs1553507265
COL3A1
1 1.000 0.160 2 188988611 frameshift variant C/- delins 0.700 0
dbSNP: rs1553508025
rs1553508025
COL3A1 ; MIR3606
1 1.000 0.160 2 188995033 splice acceptor variant TCATTATTTTCAGGGTGCCCCTGGGTTCCGAGGACCTGCTGGACCAAATGGCATCCC/- del 0.700 0
dbSNP: rs1553508039
rs1553508039
COL3A1 ; MIR3606
1 1.000 0.160 2 188995101 splice donor variant T/C snv 0.700 0
dbSNP: rs1553508338
rs1553508338
COL3A1
1 1.000 0.160 2 188997165 missense variant G/A snv 0.700 0
dbSNP: rs1553509187
rs1553509187
COL3A1
1 1.000 0.160 2 189004082 missense variant G/A snv 0.700 0
dbSNP: rs1553509208
rs1553509208
COL3A1
1 1.000 0.160 2 189004261 frameshift variant C/- del 0.700 0
dbSNP: rs1553509630
rs1553509630
COL3A1
1 1.000 0.160 2 189007942 splice region variant AG/- del 0.700 0
dbSNP: rs1553509726
rs1553509726
COL3A1
1 1.000 0.160 2 189008925 missense variant G/A snv 0.700 0
dbSNP: rs1553510000
rs1553510000
COL3A1
1 1.000 0.160 2 189011640 stop gained G/T snv 0.700 0
dbSNP: rs1559052609
rs1559052609
COL3A1 ; LOC105373791
1 1.000 0.160 2 188984814 stop gained G/A snv 0.700 0
dbSNP: rs1559053784
rs1559053784
COL3A1
1 1.000 0.160 2 188988139 splice region variant GTATAGC/ACA delins 0.700 0
dbSNP: rs1559055162
rs1559055162
COL3A1
1 1.000 0.160 2 188991725 splice region variant AG/- delins 0.700 0
dbSNP: rs1559056438
rs1559056438
COL3A1 ; MIR3606
2 0.925 0.200 2 188994727 missense variant G/A snv 0.700 0