NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 ×
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: rs1057519101
rs1057519101 		1.000 19 15185371 missense variant G/A snv 8.2E-06 7.0E-06
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 0
dbSNP: rs1236699193
rs1236699193 		0.882 0.120 19 15192202 missense variant C/A;T snv 4.1E-06
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 0
dbSNP: rs1313319587
rs1313319587 		1.000 19 15188276 missense variant C/A;T snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 0
dbSNP: rs1328784046
rs1328784046 		0.925 0.160 19 15185502 missense variant T/C snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 0
dbSNP: rs1555727841
rs1555727841 		0.882 0.120 19 15180103 missense variant C/T snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 0
dbSNP: rs1555730188
rs1555730188 		1.000 19 15197533 missense variant C/T snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 0
dbSNP: rs773539041
rs773539041 		1.000 19 15192289 missense variant C/A;T snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 0
dbSNP: rs864621964
rs864621964 		1.000 19 15197510 missense variant C/T snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 0
dbSNP: rs864621965
rs864621965 		1.000 19 15191789 inframe deletion CATGTCCCCCCATTGAGACATCGGTGTCCTGGACAGTCGTCCACG/- delins
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 0
dbSNP: rs864621966
rs864621966 		1.000 19 15184451 splice acceptor variant C/A snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 0
dbSNP: rs1323608032
rs1323608032 		1.000 19 15189109 missense variant C/A snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 1.000 4 2000 2009
dbSNP: rs863225297
rs863225297 		1.000 19 15189278 missense variant G/C snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 1.000 1 2012 2012
dbSNP: rs1167405466
rs1167405466 		1.000 19 15180761 missense variant T/C snv 7.0E-06
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 1.000 20 1997 2013
dbSNP: rs1209610920
rs1209610920 		1.000 19 15178878 missense variant C/T snv 7.0E-06
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 1.000 20 1997 2013
dbSNP: rs137852642
rs137852642 		0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 1.000 20 1997 2013
dbSNP: rs1555728814
rs1555728814 		1.000 19 15187299 missense variant C/T snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 1.000 20 1997 2013
dbSNP: rs1555729068
rs1555729068 		1.000 19 15189106 missense variant G/A snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 1.000 20 1997 2013
dbSNP: rs1555729451
rs1555729451 		1.000 19 15191968 missense variant C/T snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 1.000 20 1997 2013
dbSNP: rs1555729452
rs1555729452 		1.000 19 15191974 missense variant C/T snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 1.000 20 1997 2013
dbSNP: rs1555729455
rs1555729455 		1.000 19 15192005 missense variant A/T snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 1.000 20 1997 2013
dbSNP: rs1555729468
rs1555729468 		1.000 19 15192037 missense variant C/T snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 1.000 20 1997 2013
dbSNP: rs1555729486
rs1555729486 		1.000 19 15192118 missense variant C/A;T snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 1.000 20 1997 2013
dbSNP: rs1555729510
rs1555729510 		1.000 19 15192203 missense variant A/G snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 1.000 20 1997 2013
dbSNP: rs1555729610
rs1555729610 		1.000 19 15192491 missense variant A/G;T snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 1.000 20 1997 2013
dbSNP: rs1555730176
rs1555730176 		1.000 19 15197503 missense variant C/G snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.700 1.000 20 1997 2013