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: rs41276738
rs41276738
VWF
7 0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03 0.730 1.000 3 2006 2018
dbSNP: rs121964894
rs121964894
VWF
2 0.925 0.080 12 6036488 missense variant G/A snv 6.4E-05 4.2E-05 0.700 0
dbSNP: rs61748477
rs61748477
VWF
3 0.925 0.080 12 6044361 missense variant G/A snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs61748478
rs61748478
VWF
1 1.000 0.080 12 6044349 missense variant T/C snv 0.700 0
dbSNP: rs61748497
rs61748497
VWF
4 0.851 0.080 12 6025624 missense variant A/G snv 0.700 0
dbSNP: rs61754002
rs61754002
VWF
1 1.000 0.080 12 6072369 stop gained G/T snv 0.700 0
dbSNP: rs62643630
rs62643630
VWF
1 1.000 0.080 12 6044322 missense variant C/A snv 0.700 0
dbSNP: rs530641616
rs530641616
PRH1 ; PRR4 ; PRH1-PRR4
1 1.000 0.080 12 10882524 missense variant T/C snv 0.010 1.000 1 1996 1996
dbSNP: rs568202260
rs568202260
PRH1 ; PRR4 ; PRH1-PRR4
1 1.000 0.080 12 10882461 missense variant T/C snv 0.010 1.000 1 1996 1996
dbSNP: rs61748469
rs61748469
VWF
1 1.000 0.080 12 6044446 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs751205634
rs751205634
PRH1 ; PRH2 ; PRR4 ; PRH1-PRR4
1 1.000 0.080 12 10930836 missense variant A/G snv 7.0E-06 0.010 1.000 1 1996 1996