rs61750654
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61750654(C;T) |
Make rs61750654(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 94000870 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61750654 |
dbSNP (classic) | rs61750654 |
ClinGen | rs61750654 |
ebi | rs61750654 |
HLI | rs61750654 |
Exac | rs61750654 |
Gnomad | rs61750654 |
Varsome | rs61750654 |
LitVar | rs61750654 |
Map | rs61750654 |
PheGenI | rs61750654 |
Biobank | rs61750654 |
1000 genomes | rs61750654 |
hgdp | rs61750654 |
ensembl | rs61750654 |
geneview | rs61750654 |
scholar | rs61750654 |
rs61750654 | |
pharmgkb | rs61750654 |
gwascentral | rs61750654 |
openSNP | rs61750654 |
23andMe | rs61750654 |
SNPshot | rs61750654 |
SNPdbe | rs61750654 |
MSV3d | rs61750654 |
GWAS Ctlg | rs61750654 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61750654(T;T) |
Alt | rs61750654(T;T) |
Reference | Rs61750654(C;C) |
Significance | Pathogenic |
Disease | not provided Stargardt disease 1 Blindness Macular degeneration Visual loss |
Variation | info |
Gene | ABCA4 |
CLNDBN | not provided Stargardt disease 1 Blindness Macular degeneration Visual loss |
Reversed | 1 |
HGVS | NC_000001.10:g.94466426G>A |
CLNSRC | ClinVar Retina International |
CLNACC | RCV000085820.1, RCV000132593.1, RCV000414922.1, |