rs28933696
From SNPedia
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 |
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, |