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: rs80338831
rs80338831
MYH9
4 0.882 0.320 22 36292060 missense variant C/A;G;T snv 0.830 1.000 12 2000 2011
dbSNP: rs80338834
rs80338834
MYH9
3 0.925 0.160 22 36284474 missense variant C/T snv 0.830 1.000 12 2000 2006
dbSNP: rs80338826
rs80338826
MYH9
6 0.827 0.320 22 36305985 missense variant G/A snv 0.810 1.000 11 2000 2006
dbSNP: rs80338827
rs80338827
MYH9
4 0.882 0.320 22 36305984 missense variant C/T snv 7.0E-06 0.810 1.000 11 2000 2006
dbSNP: rs121913655
rs121913655
MYH9
2 1.000 0.160 22 36348958 missense variant G/A;C snv 2.4E-05 0.800 1.000 11 2000 2006
dbSNP: rs121913656
rs121913656
MYH9
1 22 36295526 missense variant G/A snv 0.800 1.000 11 2000 2006
dbSNP: rs121913657
rs121913657
MYH9
4 0.882 0.160 22 36348950 missense variant G/A snv 0.800 1.000 11 2000 2006
dbSNP: rs80338829
rs80338829
MYH9
5 0.851 0.200 22 36295069 missense variant G/A snv 0.800 1.000 11 2000 2006
dbSNP: rs80338830
rs80338830
MYH9
3 0.925 0.160 22 36295068 missense variant C/A snv 0.800 1.000 11 2000 2006
dbSNP: rs80338835
rs80338835
MYH9
3 0.925 0.200 22 36282754 stop gained G/A snv 4.0E-06 7.0E-06 0.730 1.000 3 2001 2014
dbSNP: rs200901330
rs200901330
MYH9
1 22 36295650 missense variant A/G snv 3.2E-04 4.3E-04 0.700 1.000 11 2000 2006
dbSNP: rs554332083
rs554332083
MYH9
1 22 36300961 missense variant T/G snv 1.6E-04 2.8E-05 0.700 1.000 11 2000 2006
dbSNP: rs762773112
rs762773112
MYH9
1 22 36285158 missense variant T/C snv 1.6E-05 7.0E-06 0.700 1.000 11 2000 2006
dbSNP: rs76368635
rs76368635
MYH9
1 22 36292132 missense variant G/A snv 1.0E-03 1.2E-03 0.700 1.000 11 2000 2006
dbSNP: rs587776808
rs587776808
MYH9
1 22 36282730 frameshift variant C/- delins 0.700 0
dbSNP: rs797044804
rs797044804
MYH9
2 1.000 0.160 22 36291990 missense variant T/A snv 0.700 0
dbSNP: rs80338828
rs80338828
MYH9
6 0.851 0.200 22 36305975 missense variant C/T snv 0.700 0
dbSNP: rs780187879
rs780187879
DNAH8
1 6 38852745 missense variant A/G snv 1.2E-05 2.1E-05 0.010 1.000 1 2005 2005
dbSNP: rs782426204
rs782426204
F8
2 1.000 0.080 X 154904974 missense variant A/G snv 5.5E-06 0.010 1.000 1 2015 2015