rs144691445
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs144691445(C;G) |
Make rs144691445(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 74180171 |
Gene | STRA6 |
is a | snp |
is | mentioned by |
dbSNP | rs144691445 |
dbSNP (classic) | rs144691445 |
ClinGen | rs144691445 |
ebi | rs144691445 |
HLI | rs144691445 |
Exac | rs144691445 |
Gnomad | rs144691445 |
Varsome | rs144691445 |
LitVar | rs144691445 |
Map | rs144691445 |
PheGenI | rs144691445 |
Biobank | rs144691445 |
1000 genomes | rs144691445 |
hgdp | rs144691445 |
ensembl | rs144691445 |
geneview | rs144691445 |
scholar | rs144691445 |
rs144691445 | |
pharmgkb | rs144691445 |
gwascentral | rs144691445 |
openSNP | rs144691445 |
23andMe | rs144691445 |
SNPshot | rs144691445 |
SNPdbe | rs144691445 |
MSV3d | rs144691445 |
GWAS Ctlg | rs144691445 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144691445(G;G) rs144691445(T;T) |
Alt | rs144691445(G;G) rs144691445(T;T) |
Reference | Rs144691445(C;C) |
Significance | Pathogenic |
Disease | Anophthalmia - microphthalmia |
Variation | info |
Gene | STRA6 |
CLNDBN | Anophthalmia - microphthalmia |
Reversed | 0 |
HGVS | NC_000015.9:g.74472512C>G |
CLNSRC | |
CLNACC | RCV000207387.1, |