SEPTIN5, septin 5, 5413

N. diseases: 29; N. variants: 4
Disease: Bernard-Soulier Syndrome, Type B ×
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: rs121909752
rs121909752 		0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06
CUI: C1856447
Disease: Bernard-Soulier Syndrome, Type B
Bernard-Soulier Syndrome, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs730882059
rs730882059 		1.000 0.080 22 19723410 3 prime UTR variant C/G snv 7.6E-06 7.0E-06
CUI: C1856447
Disease: Bernard-Soulier Syndrome, Type B
Bernard-Soulier Syndrome, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0