rs137852642, NOTCH3

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
44 0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.800 1.000 20 1997 2013
Recurrent subcortical infarcts
CUI: C4024918
Disease: Recurrent subcortical infarcts
1 0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.700 0
CADASIL Syndrome
CUI: C0751587
Disease: CADASIL Syndrome
23 0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.100 1.000 12 2000 2020
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2015 2015
Dementia
CUI: C0497327
Disease: Dementia
176 0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2006 2006
Hemiparaesthesia
CUI: C1399357
Disease: Hemiparaesthesia
1 0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2005 2005
Migraine Disorders
CUI: C0149931
Disease: Migraine Disorders
264 0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2015 2015
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
30 0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2005 2005
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2006 2006