rs746566873
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a mutation for Stargardt disease |
(G;G) | 0 | common in clinvar |
Make rs746566873(A;A) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 94051677 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs746566873 |
dbSNP (classic) | rs746566873 |
ClinGen | rs746566873 |
ebi | rs746566873 |
HLI | rs746566873 |
Exac | rs746566873 |
Gnomad | rs746566873 |
Varsome | rs746566873 |
LitVar | rs746566873 |
Map | rs746566873 |
PheGenI | rs746566873 |
Biobank | rs746566873 |
1000 genomes | rs746566873 |
hgdp | rs746566873 |
ensembl | rs746566873 |
geneview | rs746566873 |
scholar | rs746566873 |
rs746566873 | |
pharmgkb | rs746566873 |
gwascentral | rs746566873 |
openSNP | rs746566873 |
23andMe | rs746566873 |
SNPshot | rs746566873 |
SNPdbe | rs746566873 |
MSV3d | rs746566873 |
GWAS Ctlg | rs746566873 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs746566873(A;A) |
Alt | rs746566873(A;A) |
Reference | Rs746566873(G;G) |
Significance | Probable-Pathogenic |
Disease | Stargardt disease 1 not provided |
Variation | info |
Gene | ABCA4 |
CLNDBN | Stargardt disease 1 not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.94517233G>A |
CLNSRC | |
CLNACC | RCV000408530.1, RCV000490201.1, |