NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: Ischemic stroke ×
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: rs797045014
rs797045014 		0.851 0.160 19 15192182 missense variant G/A;T snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs28933698
rs28933698 		0.882 0.160 19 15189004 missense variant A/G snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs767539048
rs767539048 		1.000 0.080 19 15192034 missense variant G/A snv 3.2E-05 7.7E-05
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs779558160
rs779558160 		0.851 0.160 19 15192258 synonymous variant A/G snv 9.1E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs78501403
rs78501403 		1.000 0.080 19 15174125 missense variant C/G;T snv 1.2E-03; 4.1E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013