rs3815188
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs3815188(A;A) |
Make rs3815188(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 15192414 |
Gene | NOTCH3 |
is a | snp |
is | mentioned by |
dbSNP | rs3815188 |
dbSNP (classic) | rs3815188 |
ClinGen | rs3815188 |
ebi | rs3815188 |
HLI | rs3815188 |
Exac | rs3815188 |
Gnomad | rs3815188 |
Varsome | rs3815188 |
LitVar | rs3815188 |
Map | rs3815188 |
PheGenI | rs3815188 |
Biobank | rs3815188 |
1000 genomes | rs3815188 |
hgdp | rs3815188 |
ensembl | rs3815188 |
geneview | rs3815188 |
scholar | rs3815188 |
rs3815188 | |
pharmgkb | rs3815188 |
gwascentral | rs3815188 |
openSNP | rs3815188 |
23andMe | rs3815188 |
SNPshot | rs3815188 |
SNPdbe | rs3815188 |
MSV3d | rs3815188 |
GWAS Ctlg | rs3815188 |
GMAF | 0.2383 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 24086431] NOTCH3 Variants and Risk of Ischemic Stroke
[PMID 22373597] Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene.
[PMID 22664156] Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
[PMID 25120811] Notch1 single nucleotide polymorphism rs3124591 is associated with the risk of development of invasive ductal breast carcinoma in a Chinese population
ClinVar | |
---|---|
Risk | rs3815188(A;A) rs3815188(T;T) |
Alt | rs3815188(A;A) rs3815188(T;T) |
Reference | Rs3815188(G;G) |
Significance | 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.15303225G>A |
CLNSRC | |
CLNACC | RCV000251392.1, RCV000373577.1, |
[PMID 29973002] [Association between polymorphism in notch signaling pathway and lung cancer risk].