rs28937321
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 7.7 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukocenphalopathy, type 1 (CADASIL) |
Make rs28937321(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 15192504 |
Gene | NOTCH3 |
is a | snp |
is | mentioned by |
dbSNP | rs28937321 |
dbSNP (classic) | rs28937321 |
ClinGen | rs28937321 |
ebi | rs28937321 |
HLI | rs28937321 |
Exac | rs28937321 |
Gnomad | rs28937321 |
Varsome | rs28937321 |
LitVar | rs28937321 |
Map | rs28937321 |
PheGenI | rs28937321 |
Biobank | rs28937321 |
1000 genomes | rs28937321 |
hgdp | rs28937321 |
ensembl | rs28937321 |
geneview | rs28937321 |
scholar | rs28937321 |
rs28937321 | |
pharmgkb | rs28937321 |
gwascentral | rs28937321 |
openSNP | rs28937321 |
23andMe | rs28937321 |
SNPshot | rs28937321 |
SNPdbe | rs28937321 |
MSV3d | rs28937321 |
GWAS Ctlg | rs28937321 |
Max Magnitude | 7.7 |
OMIM | 600276 |
Desc | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY |
Variant | 0001 |
Related | also |
ClinVar | |
---|---|
Risk | rs28937321(T;T) |
Alt | rs28937321(T;T) |
Reference | Rs28937321(G;G) |
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.15303315C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009799.4, |