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: rs121964895
rs121964895
VWF
7 0.851 0.080 12 6021960 missense variant C/A;T snv 0.750 1.000 6 2006 2019
dbSNP: rs61749397
rs61749397
VWF
9 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.740 1.000 5 2010 2019
dbSNP: rs61750117
rs61750117
VWF
3 0.882 0.080 12 6018629 missense variant G/A;C;T snv 4.0E-06 0.720 1.000 3 1996 2019
dbSNP: rs41276738
rs41276738
VWF
7 0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03 0.710 1.000 16 1991 2019
dbSNP: rs61750074
rs61750074
VWF
2 0.925 0.080 12 6019283 missense variant G/A snv 2.0E-05 7.0E-06 0.710 1.000 6 2001 2016
dbSNP: rs267607328
rs267607328
VWF
2 0.925 0.080 12 6022811 missense variant G/A snv 0.710 1.000 2 2002 2019
dbSNP: rs61749387
rs61749387
VWF
3 0.882 0.080 12 6019496 missense variant G/A snv 0.710 1.000 2 1996 2019
dbSNP: rs61749395
rs61749395
VWF
1 1.000 0.080 12 6019475 missense variant G/A snv 0.710 1.000 2 2001 2019
dbSNP: rs61750070
rs61750070
VWF
3 0.882 0.080 12 6019303 missense variant A/C snv 3.2E-05 3.5E-05 0.710 1.000 2 2007 2019
dbSNP: rs61750071
rs61750071
VWF
3 0.882 0.080 12 6019298 missense variant G/A;T snv 4.0E-06 0.710 1.000 2 2005 2019
dbSNP: rs61750072
rs61750072
VWF
4 0.925 0.080 12 6019297 missense variant C/A;T snv 0.710 1.000 2 2017 2019
dbSNP: rs61750100
rs61750100
VWF
1 1.000 0.080 12 6018901 missense variant G/A snv 0.710 1.000 2 2017 2019
dbSNP: rs61751288
rs61751288
VWF
1 1.000 0.080 12 5976140 stop gained G/A snv 1.2E-05 0.710 1.000 2 2002 2019
dbSNP: rs1800386
rs1800386
VWF
5 0.851 0.120 12 6018667 missense variant T/C snv 2.7E-03 2.3E-03 0.710 1.000 1 2005 2005
dbSNP: rs61750584
rs61750584
VWF
3 0.882 0.080 12 6018535 missense variant A/G snv 0.700 1.000 8 1991 2019
dbSNP: rs61749370
rs61749370
VWF
3 0.882 0.080 12 6019621 missense variant G/A;T snv 8.0E-04; 2.8E-04 0.700 1.000 6 1993 2019
dbSNP: rs772203447
rs772203447
VWF
1 1.000 0.080 12 6044430 missense variant C/T snv 5.6E-05 1.4E-05 0.700 1.000 4 2008 2016
dbSNP: rs61751286
rs61751286
VWF
1 1.000 0.080 12 5976158 missense variant G/A snv 8.0E-05 1.3E-04 0.700 1.000 3 2007 2009
dbSNP: rs746482504
rs746482504
VWF
2 0.925 0.080 12 5983175 synonymous variant G/A snv 8.0E-06 0.700 1.000 3 2007 2016
dbSNP: rs141649383
rs141649383
VWF
1 1.000 0.080 12 6057953 missense variant G/A;C snv 7.2E-04 0.700 1.000 1 2019 2019
dbSNP: rs2363337
rs2363337
VWF
1 1.000 0.080 12 6023630 splice donor variant C/T snv 2.0E-05 2.1E-05 0.700 1.000 1 2019 2019
dbSNP: rs267607321
rs267607321
VWF
1 1.000 0.080 12 6023651 missense variant C/G snv 0.700 1.000 1 2019 2019
dbSNP: rs267607326
rs267607326
VWF
2 0.925 0.080 12 6022841 missense variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs267607334
rs267607334
VWF
1 1.000 0.080 12 6019555 missense variant A/C snv 0.700 1.000 1 2019 2019
dbSNP: rs267607340
rs267607340
VWF
1 1.000 0.080 12 6018806 inframe deletion ACGTGGATG/- delins 0.700 1.000 1 2019 2019