NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: Cerebrovascular accident ×
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: rs1568362252
rs1568362252 		19 15192490 missense variant C/T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs28933696
rs28933696 		0.882 0.160 19 15192134 missense variant G/A snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs201118034
rs201118034 		0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 2013 2019
dbSNP: rs1043994
rs1043994 		0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs137852642
rs137852642 		0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1555729486
rs1555729486 		1.000 19 15192118 missense variant C/A;T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs28933698
rs28933698 		0.882 0.160 19 15189004 missense variant A/G snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs3815188
rs3815188 		0.827 0.120 19 15192414 synonymous variant G/A;T snv 0.17
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs61749020
rs61749020 		19 15189325 synonymous variant A/C;G;T snv 2.6E-02
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs75068032
rs75068032 		0.851 0.160 19 15187273 missense variant G/A;C;T snv 2.4E-05; 5.2E-05
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs773539041
rs773539041 		1.000 19 15192289 missense variant C/A;T snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2004 2004