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: rs794728199
rs794728199
FBN1
3 0.882 0.200 15 48489980 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121912920
rs121912920
COL3A1
2 0.925 0.160 2 189002316 missense variant G/A snv 0.700 1.000 20 1989 2003
dbSNP: rs587779606
rs587779606
COL3A1
1 1.000 0.160 2 188999542 missense variant G/A snv 0.700 1.000 8 1993 2015
dbSNP: rs1553507614
rs1553507614
COL3A1
1 1.000 0.160 2 188992185 missense variant G/A snv 0.700 1.000 6 1993 2015
dbSNP: rs1553509391
rs1553509391
COL3A1
1 1.000 0.160 2 189006206 missense variant G/A snv 0.700 1.000 6 1992 2015
dbSNP: rs1559056621
rs1559056621
COL3A1 ; MIR3606
1 1.000 0.160 2 188995092 missense variant G/A snv 0.700 1.000 6 1993 2015
dbSNP: rs587779438
rs587779438
COL3A1
1 1.000 0.160 2 189004257 missense variant G/A snv 0.700 1.000 6 1993 2015
dbSNP: rs587779692
rs587779692
COL3A1 ; MIR3606
2 0.925 0.240 2 188994297 missense variant G/A snv 0.700 1.000 6 1993 2015
dbSNP: rs1060500194
rs1060500194
COL3A1 ; MIR3606
1 1.000 0.160 2 188994235 missense variant G/C snv 0.700 1.000 5 1993 2015
dbSNP: rs1553507274
rs1553507274
COL3A1
1 1.000 0.160 2 188988626 missense variant G/T snv 0.700 1.000 5 1993 2015
dbSNP: rs1553508238
rs1553508238
COL3A1
1 1.000 0.160 2 188996443 missense variant G/A snv 0.700 1.000 5 1993 2015
dbSNP: rs1553509430
rs1553509430
COL3A1
1 1.000 0.160 2 189006445 missense variant G/A snv 0.700 1.000 5 1993 2015
dbSNP: rs1553509744
rs1553509744
COL3A1
1 1.000 0.160 2 189008979 missense variant G/A snv 0.700 1.000 5 1993 2015
dbSNP: rs1559061706
rs1559061706
COL3A1
1 1.000 0.160 2 189006363 missense variant G/C snv 0.700 1.000 5 1993 2015
dbSNP: rs1559061954
rs1559061954
COL3A1
1 1.000 0.160 2 189006937 missense variant G/T snv 0.700 1.000 5 1993 2015
dbSNP: rs587779563
rs587779563
COL3A1
1 1.000 0.160 2 189006444 missense variant G/A snv 0.700 1.000 5 1993 2015
dbSNP: rs587779654
rs587779654
COL3A1
1 1.000 0.160 2 189004303 missense variant G/A;T snv 0.700 1.000 5 1993 2015
dbSNP: rs587779688
rs587779688
COL3A1
1 1.000 0.160 2 188988648 splice region variant G/A snv 0.700 1.000 5 1993 2015
dbSNP: rs878853651
rs878853651
COL3A1
1 1.000 0.160 2 189004276 missense variant G/A snv 0.700 1.000 5 1993 2015
dbSNP: rs397509370
rs397509370
COL3A1 ; MIR3606
1 1.000 0.160 2 188994595 splice donor variant G/A;T snv 0.700 1.000 4 1990 2016
dbSNP: rs1559054653
rs1559054653
COL3A1
1 1.000 0.160 2 188990335 missense variant G/C snv 0.700 1.000 3 2014 2019
dbSNP: rs587779625
rs587779625
COL3A1
1 1.000 0.160 2 188990114 missense variant G/A snv 0.700 1.000 3 2004 2014
dbSNP: rs111929073
rs111929073
COL3A1
1 1.000 0.160 2 188999471 missense variant G/A;C;T snv 0.700 1.000 2 2006 2014
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: rs112532745
rs112532745
COL3A1
1 1.000 0.160 2 189010366 splice donor variant G/T snv 0.700 1.000 1 2014 2014