SEPTIN5, septin 5, 5413

N. diseases: 29; N. variants: 4
Disease: Bernard-Soulier 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: rs121909750
rs121909750 		1.000 0.080 22 19724181 missense variant A/G;T snv 4.2E-04
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 2 1997 2001
dbSNP: rs587783648
rs587783648 		1.000 0.080 22 19724183 missense variant C/T snv 7.1E-06
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0