rs1043994

minus

Geno	Mag	Summary
(A;A)	0	?
(A;G)		?
(G;G)	0	common

Reference

GRCh38 38.1/141

Chromosome

19

Position

15192033

Gene

NOTCH3

is a	snp
is	mentioned by
dbSNP	rs1043994
dbSNP (classic)	rs1043994
ClinGen	rs1043994
ebi	rs1043994
HLI	rs1043994
Exac	rs1043994
Gnomad	rs1043994
Varsome	rs1043994
LitVar	rs1043994
Map	rs1043994
PheGenI	rs1043994
Biobank	rs1043994
1000 genomes	rs1043994
hgdp	rs1043994
ensembl	rs1043994
geneview	rs1043994
scholar	rs1043994
google	rs1043994
pharmgkb	rs1043994
gwascentral	rs1043994
openSNP	rs1043994
23andMe	rs1043994
SNPshot	rs1043994
SNPdbe	rs1043994
MSV3d	rs1043994
GWAS Ctlg	rs1043994

GMAF

0.1442

Max Magnitude

0

A study of ~100 German patients suffering from migraines reported SNP rs1043994 to be significantly associated with increased risk. [PMID 16426270]

[PMID 22006983 ] Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease.

[PMID 22373597] Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene.

[PMID 25120811 ] Notch1 single nucleotide polymorphism rs3124591 is associated with the risk of development of invasive ductal breast carcinoma in a Chinese population

ClinVar
Risk	Rs1043994(G;G)
Alt	Rs1043994(G;G)
Reference	Rs1043994(A;A)
Significance	Non-pathogenic
Disease	not specified Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Variation	info
Gene	NOTCH3
CLNDBN	not specified Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Reversed	1
HGVS	NC_000019.9:g.15302844T>C
CLNSRC
CLNACC	RCV000242339.1, RCV000374496.1,