rs201680145
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201680145(A;A) |
Make rs201680145(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 15179052 |
Gene | MIR6795, NOTCH3 |
is a | snp |
is | mentioned by |
dbSNP | rs201680145 |
dbSNP (classic) | rs201680145 |
ClinGen | rs201680145 |
ebi | rs201680145 |
HLI | rs201680145 |
Exac | rs201680145 |
Gnomad | rs201680145 |
Varsome | rs201680145 |
LitVar | rs201680145 |
Map | rs201680145 |
PheGenI | rs201680145 |
Biobank | rs201680145 |
1000 genomes | rs201680145 |
hgdp | rs201680145 |
ensembl | rs201680145 |
geneview | rs201680145 |
scholar | rs201680145 |
rs201680145 | |
pharmgkb | rs201680145 |
gwascentral | rs201680145 |
openSNP | rs201680145 |
23andMe | rs201680145 |
SNPshot | rs201680145 |
SNPdbe | rs201680145 |
MSV3d | rs201680145 |
GWAS Ctlg | rs201680145 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201680145(A;A) |
Alt | rs201680145(A;A) |
Reference | Rs201680145(G;G) |
Significance | Pathogenic |
Disease | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy not specified |
Variation | info |
Gene | NOTCH3 MIR6795 |
CLNDBN | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy not specified |
Reversed | 0 |
HGVS | NC_000019.9:g.15289863G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000200615.1, RCV000427727.1, |