TBXAS1, thromboxane A synthase 1, 6916

N. diseases: 77; N. variants: 20
Disease: GHOSAL HEMATODIAPHYSEAL SYNDROME ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199422114
rs199422114 		0.925 0.120 7 140017766 missense variant T/C snv 7.0E-06
CUI: C4016444
Disease: GHOSAL HEMATODIAPHYSEAL SYNDROME
GHOSAL HEMATODIAPHYSEAL SYNDROME 		0.700 0
dbSNP: rs199422116
rs199422116 		0.925 0.120 7 140017747 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C4016444
Disease: GHOSAL HEMATODIAPHYSEAL SYNDROME
GHOSAL HEMATODIAPHYSEAL SYNDROME 		0.700 0
dbSNP: rs199422117
rs199422117 		0.925 0.120 7 140015731 missense variant G/A snv 8.3E-04 1.7E-04
CUI: C4016444
Disease: GHOSAL HEMATODIAPHYSEAL SYNDROME
GHOSAL HEMATODIAPHYSEAL SYNDROME 		0.700 0