rs61749020
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs61749020(A;G) |
Make rs61749020(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 15189325 |
Gene | NOTCH3 |
is a | snp |
is | mentioned by |
dbSNP | rs61749020 |
dbSNP (classic) | rs61749020 |
ClinGen | rs61749020 |
ebi | rs61749020 |
HLI | rs61749020 |
Exac | rs61749020 |
Gnomad | rs61749020 |
Varsome | rs61749020 |
LitVar | rs61749020 |
Map | rs61749020 |
PheGenI | rs61749020 |
Biobank | rs61749020 |
1000 genomes | rs61749020 |
hgdp | rs61749020 |
ensembl | rs61749020 |
geneview | rs61749020 |
scholar | rs61749020 |
rs61749020 | |
pharmgkb | rs61749020 |
gwascentral | rs61749020 |
openSNP | rs61749020 |
23andMe | rs61749020 |
SNPshot | rs61749020 |
SNPdbe | rs61749020 |
MSV3d | rs61749020 |
GWAS Ctlg | rs61749020 |
GMAF | 0.01423 |
Max Magnitude | 0 |
[PMID 24086431] NOTCH3 Variants and Risk of Ischemic Stroke
ClinVar | |
---|---|
Risk | rs61749020(C;C) rs61749020(G;G) rs61749020(T;T) |
Alt | rs61749020(C;C) rs61749020(G;G) rs61749020(T;T) |
Reference | Rs61749020(A;A) |
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.15300136A>G |
CLNSRC | |
CLNACC | RCV000252960.1, RCV000362891.1, |