Source: BEFREE

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: rs1442458912
rs1442458912
PRB1 ; PRB2
1.000 0.080 12 11393944 missense variant T/C snv 4.0E-06
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.050 1.000 5 1999 2007
dbSNP: rs374100662
rs374100662
PRB1 ; PRB2
1.000 0.080 12 11393060 missense variant G/A snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2006 2006
dbSNP: rs759081917
rs759081917
PRB1 ; PRB2
1.000 0.080 12 11393857 missense variant G/A;C snv 4.1E-06
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.010 1.000 1 2000 2000