rs201118034, NOTCH3

N. diseases: 6
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 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06 0.800 1.000 29 1997 2015
LATERAL MENINGOCELE SYNDROME
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
12 0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06 0.700 0
MYOFIBROMATOSIS, INFANTILE, 2
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
7 0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06 0.700 0
CADASIL Syndrome
CUI: C0751587
Disease: CADASIL Syndrome
23 0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06 0.030 1.000 3 2013 2015
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06 0.030 1.000 3 2013 2019
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06 0.020 1.000 2 2014 2015