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: rs1559057346
rs1559057346
COL3A1
1 1.000 0.160 2 188996499 splice region variant AG/- delins 0.700 0
dbSNP: rs1559061242
rs1559061242
COL3A1
1 1.000 0.160 2 189005368 missense variant GG/AC mnv 0.700 0
dbSNP: rs267599120
rs267599120
COL3A1
1 1.000 0.160 2 188988590 missense variant G/A;C snv 0.700 0
dbSNP: rs375737772
rs375737772
COL3A1
1 1.000 0.160 2 188996419 stop gained C/T snv 0.700 0
dbSNP: rs387906557
rs387906557
COL3A1 ; LOC105373791
1 1.000 0.160 2 188985737 missense variant G/C snv 0.700 0
dbSNP: rs397509369
rs397509369
COL3A1
1 1.000 0.160 2 189002343 missense variant G/A snv 0.700 0
dbSNP: rs397509371
rs397509371
COL3A1
1 1.000 0.160 2 189003067 splice region variant G/T snv 0.700 0
dbSNP: rs397509372
rs397509372
COL3A1
1 1.000 0.160 2 188996501 splice region variant G/A;T snv 0.700 0
dbSNP: rs397509373
rs397509373
COL3A1
1 1.000 0.160 2 189004365 splice donor variant G/A snv 0.700 0
dbSNP: rs397509374
rs397509374
COL3A1
1 1.000 0.160 2 189002995 inframe deletion GGGTGAGAAAGGTGAAGGAGGCCCTCC/- delins 0.700 0
dbSNP: rs397509375
rs397509375
COL3A1
1 1.000 0.160 2 188988140 splice region variant T/A;C snv 0.700 0
dbSNP: rs397509376
rs397509376
COL3A1
1 1.000 0.160 2 188997394 splice region variant G/A;T snv 0.700 0
dbSNP: rs553203474
rs553203474
COL3A1
1 1.000 0.160 2 188999570 missense variant G/A snv 0.700 0
dbSNP: rs587779416
rs587779416
COL3A1
1 1.000 0.160 2 189005395 missense variant G/T snv 0.700 0
dbSNP: rs587779417
rs587779417
COL3A1
1 1.000 0.160 2 189003457 missense variant G/A snv 0.700 0
dbSNP: rs587779418
rs587779418
COL3A1
1 1.000 0.160 2 188999888 missense variant G/A snv 0.700 0
dbSNP: rs587779421
rs587779421
COL3A1
1 1.000 0.160 2 188997746 missense variant G/A snv 0.700 0
dbSNP: rs587779422
rs587779422
COL3A1
1 1.000 0.160 2 188991727 splice region variant G/A snv 0.700 0
dbSNP: rs587779423
rs587779423
COL3A1
1 1.000 0.160 2 188991728 splice region variant T/A;C snv 0.700 0
dbSNP: rs587779424
rs587779424
COL3A1
1 1.000 0.160 2 189004144 splice donor variant G/A snv 0.700 0
dbSNP: rs587779425
rs587779425
COL3A1
1 1.000 0.160 2 188991717 splice donor variant AGTGAGTATAGCTGC/- delins 0.700 0
dbSNP: rs587779426
rs587779426
COL3A1
1 1.000 0.160 2 188991724 splice donor variant T/A;C snv 0.700 0
dbSNP: rs587779429
rs587779429
COL3A1
1 1.000 0.160 2 188998720 splice donor variant T/C snv 0.700 0
dbSNP: rs587779430
rs587779430
COL3A1 ; MIR3606
1 1.000 0.160 2 188994075 splice donor variant GAAATGGTAAGCTGTCCCCACTCCTCAGC/- delins 0.700 0
dbSNP: rs587779432
rs587779432
COL3A1
1 1.000 0.160 2 189004100 missense variant G/A snv 0.700 0