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: rs1367630608
rs1367630608
F8
1 1.000 0.080 X 154903923 missense variant A/G snv 0.700 1.000 20 1989 2002
dbSNP: rs137852411
rs137852411
F8
1 1.000 0.080 X 154961138 missense variant A/G snv 0.700 1.000 20 1989 2002
dbSNP: rs137852423
rs137852423
F8
1 1.000 0.080 X 154954009 missense variant A/G snv 9.4E-06 0.700 1.000 20 1989 2002
dbSNP: rs1455943875
rs1455943875
F8
1 1.000 0.080 X 154993002 missense variant A/G snv 0.700 1.000 20 1989 2002
dbSNP: rs782193428
rs782193428
F8
1 1.000 0.080 X 154957009 missense variant A/G snv 5.5E-06 2.8E-05 0.700 1.000 20 1989 2002
dbSNP: rs137852365
rs137852365
F8
1 1.000 0.080 X 154863103 missense variant A/G snv 0.800 1.000 2 2011 2013
dbSNP: rs137852375
rs137852375
F8
1 1.000 0.080 X 154906421 missense variant A/G snv 0.800 1.000 2 2011 2013
dbSNP: rs137852376
rs137852376
F8
1 1.000 0.080 X 154954041 missense variant A/G snv 0.800 1.000 2 2011 2013
dbSNP: rs766182641
rs766182641
AK3
3 0.882 0.080 9 4719292 missense variant A/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1234456704
rs1234456704
F8
1 1.000 0.080 X 154966463 missense variant A/G snv 0.700 0
dbSNP: rs137852370
rs137852370
F8
1 1.000 0.080 X 154966655 missense variant A/G snv 0.700 0
dbSNP: rs387906430
rs387906430
F8
1 1.000 0.080 X 154969355 missense variant A/G snv 0.700 0
dbSNP: rs387906443
rs387906443
F8
1 1.000 0.080 X 154965996 missense variant A/G snv 0.700 0
dbSNP: rs387906446
rs387906446
F8
1 1.000 0.080 X 154956980 missense variant A/G snv 0.700 0
dbSNP: rs137852407
rs137852407
F8
1 1.000 0.080 X 154969360 missense variant A/G;T snv 0.800 1.000 22 1989 2013
dbSNP: rs782479558
rs782479558
F8
1 1.000 0.080 X 154860580 missense variant A/G;T snv 0.700 1.000 20 1989 2002
dbSNP: rs137852382
rs137852382
F8
1 1.000 0.080 X 154997065 missense variant A/G;T snv 0.800 1.000 2 2011 2013
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs111033616
rs111033616
F8
1 1.000 0.080 X 154966065 missense variant A/T snv 0.800 1.000 22 1989 2013
dbSNP: rs782717799
rs782717799
F8
1 1.000 0.080 X 154860497 missense variant A/T snv 5.5E-06 0.700 1.000 20 1989 2002
dbSNP: rs748641905
rs748641905
MCFD2
3 0.882 0.080 2 46905501 missense variant A/T snv 0.010 1.000 1 2008 2008
dbSNP: rs137852408
rs137852408
F8
1 1.000 0.080 X 154966671 stop gained A/T snv 0.700 0
dbSNP: rs387906434
rs387906434
F8
1 1.000 0.080 X 154999532 frameshift variant AACA/- delins 0.700 0
dbSNP: rs387906453
rs387906453
F8
1 1.000 0.080 X 154929490 frameshift variant AAGAG/- delins 0.700 0
dbSNP: rs387906435
rs387906435
F8
1 1.000 0.080 X 154996996 frameshift variant AC/- delins 0.700 0