rs443198, NOTCH4

N. diseases: 4
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.
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
287 0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39 0.800 1.000 2 2010 2011
Congenital arteriovenous malformation
23 0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39 0.010 1.000 1 2017 2017
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39 0.010 1.000 1 2017 2017
Pemphigus Vulgaris
CUI: C0030809
Disease: Pemphigus Vulgaris
39 0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39 0.700 1.000 1 2012 2012