rs28933696

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	7.7	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukocenphalopathy, type 1 (CADASIL)
(G;G)	0

Make rs28933696(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

15192134

Gene

NOTCH3

is a	snp
is	mentioned by
dbSNP	rs28933696
dbSNP (classic)	rs28933696
ClinGen	rs28933696
ebi	rs28933696
HLI	rs28933696
Exac	rs28933696
Gnomad	rs28933696
Varsome	rs28933696
LitVar	rs28933696
Map	rs28933696
PheGenI	rs28933696
Biobank	rs28933696
1000 genomes	rs28933696
hgdp	rs28933696
ensembl	rs28933696
geneview	rs28933696
scholar	rs28933696
google	rs28933696
pharmgkb	rs28933696
gwascentral	rs28933696
openSNP	rs28933696
23andMe	rs28933696
SNPshot	rs28933696
SNPdbe	rs28933696
MSV3d	rs28933696
GWAS Ctlg	rs28933696

Max Magnitude

7.7

OMIM	600276
Desc	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
Variant	0002
Related	also

ClinVar
Risk	rs28933696(T;T)
Alt	rs28933696(T;T)
Reference	Rs28933696(C;C)
Significance	Pathogenic
Disease	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Variation	info
Gene	NOTCH3
CLNDBN	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Reversed	1
HGVS	NC_000019.9:g.15302945G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009800.4,