Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5030764
rs5030764
GP9
0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.870 1.000 0 1993 2019
dbSNP: rs121909750
rs121909750
GP1BB ; SEPTIN5 ; SEPT5-GP1BB
1.000 0.080 22 19724181 missense variant A/G;T snv 4.2E-04
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.810 1.000 1 1997 2001
dbSNP: rs28933378
rs28933378
GP9
0.925 0.080 3 129061809 missense variant T/C snv 7.8E-05 7.0E-06
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.800 1.000 7 1993 2002
dbSNP: rs121909751
rs121909751
GP1BB ; SEPT5-GP1BB
1.000 0.080 22 19724240 missense variant G/C snv
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.800 1.000 1 1997 1997
dbSNP: rs121918037
rs121918037
GP9
0.882 0.080 3 129061951 missense variant T/C;G snv 4.0E-06
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.730 1.000 7 1993 2017
dbSNP: rs121918038
rs121918038
GP9
0.925 0.080 3 129061759 missense variant T/C snv
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.710 1.000 7 1993 2002
dbSNP: rs1394634674
rs1394634674
CHRNE ; GP1BA
0.925 0.080 17 4933277 missense variant T/A snv 4.0E-06
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.710 1.000 6 1992 1999
dbSNP: rs771048666
rs771048666
CHRNE ; GP1BA
1.000 0.080 17 4933038 missense variant T/C snv 1.2E-04 1.3E-04
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.710 1.000 6 1992 2000
dbSNP: rs121918036
rs121918036
GP9
0.925 0.080 3 129061849 missense variant A/G snv
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.700 1.000 7 1993 2002
dbSNP: rs28933377
rs28933377
GP9
0.925 0.080 3 129061906 missense variant T/C snv 6.9E-05 8.4E-05
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.700 1.000 7 1993 2002
dbSNP: rs121908063
rs121908063
CHRNE ; GP1BA
0.882 0.080 17 4932821 missense variant C/T snv
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.700 1.000 6 1992 1999
dbSNP: rs121908065
rs121908065
CHRNE ; GP1BA
0.851 0.080 17 4933119 missense variant C/T snv
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.700 1.000 6 1992 1999
dbSNP: rs781541857
rs781541857
CHRNE ; GP1BA
1.000 0.080 17 4932845 missense variant T/C snv
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.700 1.000 6 1992 1999