rs797045014
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797045014(C;T) |
Make rs797045014(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 15192182 |
Gene | NOTCH3 |
is a | snp |
is | mentioned by |
dbSNP | rs797045014 |
dbSNP (classic) | rs797045014 |
ClinGen | rs797045014 |
ebi | rs797045014 |
HLI | rs797045014 |
Exac | rs797045014 |
Gnomad | rs797045014 |
Varsome | rs797045014 |
LitVar | rs797045014 |
Map | rs797045014 |
PheGenI | rs797045014 |
Biobank | rs797045014 |
1000 genomes | rs797045014 |
hgdp | rs797045014 |
ensembl | rs797045014 |
geneview | rs797045014 |
scholar | rs797045014 |
rs797045014 | |
pharmgkb | rs797045014 |
gwascentral | rs797045014 |
openSNP | rs797045014 |
23andMe | rs797045014 |
SNPshot | rs797045014 |
SNPdbe | rs797045014 |
MSV3d | rs797045014 |
GWAS Ctlg | rs797045014 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045014(T;T) |
Alt | rs797045014(T;T) |
Reference | Rs797045014(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.15302993G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000190514.1, |