rs78501403
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs78501403(C;G) |
Make rs78501403(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 15174125 |
Gene | NOTCH3 |
is a | snp |
is | mentioned by |
dbSNP | rs78501403 |
dbSNP (classic) | rs78501403 |
ClinGen | rs78501403 |
ebi | rs78501403 |
HLI | rs78501403 |
Exac | rs78501403 |
Gnomad | rs78501403 |
Varsome | rs78501403 |
LitVar | rs78501403 |
Map | rs78501403 |
PheGenI | rs78501403 |
Biobank | rs78501403 |
1000 genomes | rs78501403 |
hgdp | rs78501403 |
ensembl | rs78501403 |
geneview | rs78501403 |
scholar | rs78501403 |
rs78501403 | |
pharmgkb | rs78501403 |
gwascentral | rs78501403 |
openSNP | rs78501403 |
23andMe | rs78501403 |
SNPshot | rs78501403 |
SNPdbe | rs78501403 |
MSV3d | rs78501403 |
GWAS Ctlg | rs78501403 |
GMAF | 0.003214 |
Max Magnitude | 0 |
[PMID 24086431] NOTCH3 Variants and Risk of Ischemic Stroke
ClinVar | |
---|---|
Risk | rs78501403(G;G) rs78501403(T;T) |
Alt | rs78501403(G;G) rs78501403(T;T) |
Reference | Rs78501403(C;C) |
Significance | Probable-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 | 0 |
HGVS | NC_000019.9:g.15284936C>G |
CLNSRC | |
CLNACC | RCV000253764.1, RCV000392209.1, |