SERPINI1, serpin family I member 1, 5274

N. diseases: 58; N. variants: 7
Disease: Familial encephalopathy with neuroserpin inclusion bodies ×
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: rs121909051
rs121909051 		1.000 0.080 3 167789273 missense variant T/C snv
CUI: C1858680
Disease: Familial encephalopathy with neuroserpin inclusion bodies
Familial encephalopathy with neuroserpin inclusion bodies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 1999 2002
dbSNP: rs121909052
rs121909052 		1.000 0.080 3 167823019 missense variant A/G snv
CUI: C1858680
Disease: Familial encephalopathy with neuroserpin inclusion bodies
Familial encephalopathy with neuroserpin inclusion bodies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121909053
rs121909053 		0.882 0.120 3 167825265 missense variant G/A snv
CUI: C1858680
Disease: Familial encephalopathy with neuroserpin inclusion bodies
Familial encephalopathy with neuroserpin inclusion bodies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121909054
rs121909054 		1.000 0.080 3 167825264 missense variant G/A snv
CUI: C1858680
Disease: Familial encephalopathy with neuroserpin inclusion bodies
Familial encephalopathy with neuroserpin inclusion bodies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0