SERPINI1, serpin family I member 1, 5274

N. diseases: 58; N. variants: 7
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
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
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
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
Familial encephalopathy with neuroserpin inclusion bodies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs11714980
rs11714980
1.000 0.200 3 167735203 upstream gene variant T/C snv 0.27
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121909053
rs121909053
0.882 0.120 3 167825265 missense variant G/A snv
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive
Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs121909053
rs121909053
0.882 0.120 3 167825265 missense variant G/A snv
CUI: C3494652
Disease: Severe dementia
Severe dementia
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs6797312
rs6797312
3 167769515 intron variant A/T snv 0.46
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs9853967
rs9853967
1.000 0.200 3 167735251 5 prime UTR variant T/A;C;G snv
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016