rs61748548
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs61748548(G;G) |
Make rs61748548(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 94080559 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61748548 |
dbSNP (classic) | rs61748548 |
ClinGen | rs61748548 |
ebi | rs61748548 |
HLI | rs61748548 |
Exac | rs61748548 |
Gnomad | rs61748548 |
Varsome | rs61748548 |
LitVar | rs61748548 |
Map | rs61748548 |
PheGenI | rs61748548 |
Biobank | rs61748548 |
1000 genomes | rs61748548 |
hgdp | rs61748548 |
ensembl | rs61748548 |
geneview | rs61748548 |
scholar | rs61748548 |
rs61748548 | |
pharmgkb | rs61748548 |
gwascentral | rs61748548 |
openSNP | rs61748548 |
23andMe | rs61748548 |
SNPshot | rs61748548 |
SNPdbe | rs61748548 |
MSV3d | rs61748548 |
GWAS Ctlg | rs61748548 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61748548(C;C) rs61748548(G;G) |
Alt | rs61748548(C;C) rs61748548(G;G) |
Reference | Rs61748548(T;T) |
Significance | Pathogenic |
Disease | Stargardt disease 1 not provided |
Variation | info |
Gene | ABCA4 |
CLNDBN | Stargardt disease 1 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.94546115A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008353.4, RCV000085368.1, |