rs61749420
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a mutation for Stargardt disease |
Make rs61749420(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 94060740 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61749420 |
dbSNP (classic) | rs61749420 |
ClinGen | rs61749420 |
ebi | rs61749420 |
HLI | rs61749420 |
Exac | rs61749420 |
Gnomad | rs61749420 |
Varsome | rs61749420 |
LitVar | rs61749420 |
Map | rs61749420 |
PheGenI | rs61749420 |
Biobank | rs61749420 |
1000 genomes | rs61749420 |
hgdp | rs61749420 |
ensembl | rs61749420 |
geneview | rs61749420 |
scholar | rs61749420 |
rs61749420 | |
pharmgkb | rs61749420 |
gwascentral | rs61749420 |
openSNP | rs61749420 |
23andMe | rs61749420 |
SNPshot | rs61749420 |
SNPdbe | rs61749420 |
MSV3d | rs61749420 |
GWAS Ctlg | rs61749420 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs61749420(T;T) |
Alt | rs61749420(T;T) |
Reference | Rs61749420(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided Stargardt disease 1 |
Variation | info |
Gene | ABCA4 |
CLNDBN | not provided Stargardt disease 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.94526296G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000085452.1, RCV000408546.1, |