NOTCH3, notch receptor 3, 4854

N. diseases: 418; N. variants: 71
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: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.700 0
dbSNP: rs1236699193
rs1236699193 		0.882 0.120 19 15192202 missense variant C/A;T snv 4.1E-06
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 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: rs137852642
rs137852642 		0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C4024918
Disease: Recurrent subcortical infarcts
Recurrent subcortical infarcts 		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: rs1555727841
rs1555727841 		0.882 0.120 19 15180103 missense variant C/T snv
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.700 0
dbSNP: rs1555727841
rs1555727841 		0.882 0.120 19 15180103 missense variant C/T snv
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555728965
rs1555728965 		0.925 0.080 19 15188277 missense variant A/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1555728965
rs1555728965 		0.925 0.080 19 15188277 missense variant A/C snv
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1555728965
rs1555728965 		0.925 0.080 19 15188277 missense variant A/C snv
CUI: C0917805
Disease: Transient Cerebral Ischemia
Transient Cerebral Ischemia 		Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555728965
rs1555728965 		0.925 0.080 19 15188277 missense variant A/C snv
CUI: C0033893
Disease: Tension Headache
Tension Headache 		Nervous System Diseases 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: 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: rs201118034
rs201118034 		0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		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: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs28933696
rs28933696 		0.882 0.160 19 15192134 missense variant G/A snv
CUI: C0338480
Disease: Common Migraine
Common Migraine 		Nervous System 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: rs75068032
rs75068032 		0.851 0.160 19 15187273 missense variant G/A;C;T snv 2.4E-05; 5.2E-05
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.700 0
dbSNP: rs75068032
rs75068032 		0.851 0.160 19 15187273 missense variant G/A;C;T snv 2.4E-05; 5.2E-05
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 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: rs775267348
rs775267348 		0.882 0.120 19 15192020 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2 		0.700 0
dbSNP: rs775267348
rs775267348 		0.882 0.120 19 15192020 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0