rs575453437
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs575453437(C;T) |
Make rs575453437(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 94060674 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs575453437 |
dbSNP (classic) | rs575453437 |
ClinGen | rs575453437 |
ebi | rs575453437 |
HLI | rs575453437 |
Exac | rs575453437 |
Gnomad | rs575453437 |
Varsome | rs575453437 |
LitVar | rs575453437 |
Map | rs575453437 |
PheGenI | rs575453437 |
Biobank | rs575453437 |
1000 genomes | rs575453437 |
hgdp | rs575453437 |
ensembl | rs575453437 |
geneview | rs575453437 |
scholar | rs575453437 |
rs575453437 | |
pharmgkb | rs575453437 |
gwascentral | rs575453437 |
openSNP | rs575453437 |
23andMe | rs575453437 |
SNPshot | rs575453437 |
SNPdbe | rs575453437 |
MSV3d | rs575453437 |
GWAS Ctlg | rs575453437 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs575453437(T;T) |
Alt | rs575453437(T;T) |
Reference | Rs575453437(C;C) |
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.94526230C>T |
CLNSRC | |
CLNACC | RCV000329208.1, RCV000478104.1, |