rs371491165
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs371491165(C;C) |
Make rs371491165(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 15192188 |
Gene | NOTCH3 |
is a | snp |
is | mentioned by |
dbSNP | rs371491165 |
dbSNP (classic) | rs371491165 |
ClinGen | rs371491165 |
ebi | rs371491165 |
HLI | rs371491165 |
Exac | rs371491165 |
Gnomad | rs371491165 |
Varsome | rs371491165 |
LitVar | rs371491165 |
Map | rs371491165 |
PheGenI | rs371491165 |
Biobank | rs371491165 |
1000 genomes | rs371491165 |
hgdp | rs371491165 |
ensembl | rs371491165 |
geneview | rs371491165 |
scholar | rs371491165 |
rs371491165 | |
pharmgkb | rs371491165 |
gwascentral | rs371491165 |
openSNP | rs371491165 |
23andMe | rs371491165 |
SNPshot | rs371491165 |
SNPdbe | rs371491165 |
MSV3d | rs371491165 |
GWAS Ctlg | rs371491165 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs371491165(C;C) |
Alt | rs371491165(C;C) |
Reference | Rs371491165(G;G) |
Significance | Pathogenic |
Disease | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy not provided not specified |
Variation | info |
Gene | NOTCH3 |
CLNDBN | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy not provided not specified |
Reversed | 0 |
HGVS | NC_000019.9:g.15302999G>C |
CLNSRC | ClinVar |
CLNACC | RCV000087309.1, RCV000416066.1, RCV000444397.1, |