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: rs61749389
rs61749389
VWF
1 1.000 0.080 12 6019493 missense variant T/C snv 0.700 0
dbSNP: rs762105711
rs762105711
VWF
1 1.000 0.080 12 6025623 frameshift variant C/- del 0.700 0
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: 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
dbSNP: rs373787920
rs373787920
VWF
1 1.000 0.080 12 6021961 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs61749364
rs61749364
VWF
1 1.000 0.080 12 6022006 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs61749384
rs61749384
VWF
5 0.882 0.080 12 6019502 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs61749408
rs61749408
VWF
1 1.000 0.080 12 6019336 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs61750069
rs61750069
VWF
1 1.000 0.080 12 6019313 missense variant A/T snv 0.700 1.000 1 2019 2019
dbSNP: rs61750077
rs61750077
VWF
1 1.000 0.080 12 6019223 missense variant G/A snv 2.4E-05 9.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs61750081
rs61750081
VWF
1 1.000 0.080 12 6019171 missense variant A/G;T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs61750577
rs61750577
VWF
2 0.925 0.080 12 6018628 missense variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs61750605
rs61750605
VWF
1 1.000 0.080 12 6016223 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs61750612
rs61750612
VWF
3 0.882 0.080 12 6013544 stop gained G/A;T snv 1.6E-05 0.700 1.000 1 2019 2019
dbSNP: rs61750624
rs61750624
VWF
1 1.000 0.080 12 5991818 splice donor variant C/A snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs61753992
rs61753992
VWF
1 1.000 0.080 12 6110485 missense variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs61753994
rs61753994
VWF
1 1.000 0.080 12 6110457 missense variant A/G;T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs61754019
rs61754019
VWF
1 1.000 0.080 12 6056880 missense variant G/A snv 1.0E-03 9.6E-04 0.700 1.000 1 2019 2019
dbSNP: rs62643632
rs62643632
VWF
3 0.925 0.080 12 6044298 frameshift variant G/-;GG delins 6.3E-05 0.700 1.000 1 2019 2019
dbSNP: rs63749067
rs63749067
VWF
1 1.000 0.080 12 6075398 inframe deletion GAGGGCAGGGCAGGCGCACTCCAG/- delins 0.700 1.000 1 2019 2019