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: rs5030764
rs5030764
GP9
5 0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04 0.870 1.000 11 1993 2019
dbSNP: rs121909750
rs121909750
GP1BB ; SEPTIN5 ; SEPT5-GP1BB
2 1.000 0.080 22 19724181 missense variant A/G;T snv 4.2E-04 0.810 1.000 2 1997 2001
dbSNP: rs28933378
rs28933378
GP9
2 0.925 0.080 3 129061809 missense variant T/C snv 7.8E-05 7.0E-06 0.800 1.000 7 1993 2002
dbSNP: rs121909751
rs121909751
GP1BB ; SEPT5-GP1BB
1 1.000 0.080 22 19724240 missense variant G/C snv 0.800 1.000 1 1997 1997
dbSNP: rs121918037
rs121918037
GP9
3 0.882 0.080 3 129061951 missense variant T/C;G snv 4.0E-06 0.730 1.000 9 1993 2017
dbSNP: rs121918038
rs121918038
GP9
2 0.925 0.080 3 129061759 missense variant T/C snv 0.710 1.000 7 1993 2002
dbSNP: rs771048666
rs771048666
CHRNE ; GP1BA
1 1.000 0.080 17 4933038 missense variant T/C snv 1.2E-04 1.3E-04 0.710 1.000 7 1992 2000
dbSNP: rs1394634674
rs1394634674
CHRNE ; GP1BA
2 0.925 0.080 17 4933277 missense variant T/A snv 4.0E-06 0.710 1.000 6 1992 1999
dbSNP: rs121918036
rs121918036
GP9
2 0.925 0.080 3 129061849 missense variant A/G snv 0.700 1.000 7 1993 2002
dbSNP: rs28933377
rs28933377
GP9
2 0.925 0.080 3 129061906 missense variant T/C snv 6.9E-05 8.4E-05 0.700 1.000 7 1993 2002
dbSNP: rs121908063
rs121908063
CHRNE ; GP1BA
3 0.882 0.080 17 4932821 missense variant C/T snv 0.700 1.000 6 1992 1999
dbSNP: rs121908065
rs121908065
CHRNE ; GP1BA
5 0.851 0.080 17 4933119 missense variant C/T snv 0.700 1.000 6 1992 1999
dbSNP: rs781541857
rs781541857
CHRNE ; GP1BA
1 1.000 0.080 17 4932845 missense variant T/C snv 0.700 1.000 6 1992 1999
dbSNP: rs1555549041
rs1555549041
CHRNE ; GP1BA
1 1.000 0.080 17 4932707 frameshift variant A/- delins 0.700 0
dbSNP: rs587783648
rs587783648
GP1BB ; SEPTIN5 ; SEPT5-GP1BB
1 1.000 0.080 22 19724183 missense variant C/T snv 7.1E-06 0.700 0
dbSNP: rs1442458912
rs1442458912
PRB1 ; PRB2
1 1.000 0.080 12 11393944 missense variant T/C snv 4.0E-06 0.050 1.000 5 1999 2007
dbSNP: rs1012488531
rs1012488531
VWF
1 1.000 0.080 12 6121263 missense variant T/C;G snv 4.0E-06 0.030 1.000 3 2003 2007
dbSNP: rs1305880207
rs1305880207
VWF
1 1.000 0.080 12 6110550 missense variant T/C snv 1.2E-05 7.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs181991348
rs181991348
PAX5
1 1.000 0.080 9 36840636 missense variant C/G snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs753947399
rs753947399
CHRNE ; GP1BA
1 1.000 0.080 17 4933271 missense variant T/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs759081917
rs759081917
PRB1 ; PRB2
1 1.000 0.080 12 11393857 missense variant G/A;C snv 4.1E-06 0.010 1.000 1 2000 2000
dbSNP: rs776621159
rs776621159
GP5
1 1.000 0.080 3 194398266 missense variant A/G snv 3.5E-05 3.5E-05 0.010 1.000 1 2002 2002
dbSNP: rs879254764
rs879254764
LDLR
7 0.827 0.360 19 11110752 frameshift variant G/- delins 0.010 1.000 1 2014 2014