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: rs587779677
rs587779677
COL3A1 ; LOC105373791
1 1.000 0.160 2 188974519 stop gained G/A snv 0.700 0
dbSNP: rs1559052551
rs1559052551
COL3A1 ; LOC105373791
1 1.000 0.160 2 188984759 splice acceptor variant G/C snv 0.700 1.000 1 2014 2014
dbSNP: rs1060500200
rs1060500200
COL3A1 ; LOC105373791
1 1.000 0.160 2 188984761 frameshift variant T/- del 0.700 0
dbSNP: rs1559052609
rs1559052609
COL3A1 ; LOC105373791
1 1.000 0.160 2 188984814 stop gained G/A 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: rs587779707
rs587779707
COL3A1 ; LOC105373791
1 1.000 0.160 2 188985739 frameshift variant C/- delins 0.700 0
dbSNP: rs587779714
rs587779714
COL3A1
1 1.000 0.160 2 188988091 missense variant G/A snv 0.700 0
dbSNP: rs121912926
rs121912926
COL3A1
1 1.000 0.160 2 188988099 missense variant G/A;C;T snv 0.800 1.000 32 1989 2017
dbSNP: rs587779420
rs587779420
COL3A1
1 1.000 0.160 2 188988100 missense variant G/A;C snv 0.800 1.000 26 1989 2017
dbSNP: rs587779451
rs587779451
COL3A1
1 1.000 0.160 2 188988107 frameshift variant T/- del 0.700 0
dbSNP: rs587779446
rs587779446
COL3A1
1 1.000 0.160 2 188988108 missense variant G/A snv 0.700 0
dbSNP: rs587779507
rs587779507
COL3A1
1 1.000 0.160 2 188988117 missense variant G/A;C snv 0.700 0
dbSNP: rs587779710
rs587779710
COL3A1
1 1.000 0.160 2 188988127 missense variant G/T snv 0.800 1.000 26 1989 2017
dbSNP: rs587779508
rs587779508
COL3A1
1 1.000 0.160 2 188988135 splice donor variant G/C snv 0.700 0
dbSNP: rs587779524
rs587779524
COL3A1
1 1.000 0.160 2 188988135 splice donor variant -/T delins 0.700 0
dbSNP: rs587779671
rs587779671
COL3A1
1 1.000 0.160 2 188988139 splice region variant G/A;T snv 0.700 1.000 2 2014 2015
dbSNP: rs1559053784
rs1559053784
COL3A1
1 1.000 0.160 2 188988139 splice region variant GTATAGC/ACA 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: rs267599120
rs267599120
COL3A1
1 1.000 0.160 2 188988590 missense variant G/A;C snv 0.700 0
dbSNP: rs587779601
rs587779601
COL3A1
1 1.000 0.160 2 188988599 missense variant G/A snv 0.700 0
dbSNP: rs587779641
rs587779641
COL3A1
1 1.000 0.160 2 188988600 missense variant G/A snv 0.700 0
dbSNP: rs587779436
rs587779436
COL3A1
1 1.000 0.160 2 188988608 missense variant G/C snv 0.800 1.000 26 1989 2017
dbSNP: rs1553507265
rs1553507265
COL3A1
1 1.000 0.160 2 188988611 frameshift variant C/- delins 0.700 0
dbSNP: rs587779711
rs587779711
COL3A1
1 1.000 0.160 2 188988617 missense variant G/A snv 0.800 1.000 26 1989 2017
dbSNP: rs587779626
rs587779626
COL3A1
1 1.000 0.160 2 188988618 missense variant G/A snv 0.800 1.000 26 1989 2017