rs775836288, NOTCH3

N. diseases: 2
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 0.925 0.160 19 15192389 missense variant G/A;C snv 4.0E-06 0.800 1.000 20 1997 2013
CADASIL Syndrome
CUI: C0751587
Disease: CADASIL Syndrome
23 0.925 0.160 19 15192389 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2006 2017