rs61753033
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs61753033(C;C) |
Make rs61753033(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 94008767 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61753033 |
dbSNP (classic) | rs61753033 |
ClinGen | rs61753033 |
ebi | rs61753033 |
HLI | rs61753033 |
Exac | rs61753033 |
Gnomad | rs61753033 |
Varsome | rs61753033 |
LitVar | rs61753033 |
Map | rs61753033 |
PheGenI | rs61753033 |
Biobank | rs61753033 |
1000 genomes | rs61753033 |
hgdp | rs61753033 |
ensembl | rs61753033 |
geneview | rs61753033 |
scholar | rs61753033 |
rs61753033 | |
pharmgkb | rs61753033 |
gwascentral | rs61753033 |
openSNP | rs61753033 |
23andMe | rs61753033 |
SNPshot | rs61753033 |
SNPdbe | rs61753033 |
MSV3d | rs61753033 |
GWAS Ctlg | rs61753033 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61753033(C;C) |
Alt | rs61753033(C;C) |
Reference | Rs61753033(T;T) |
Significance | Pathogenic |
Disease | Stargardt disease Stargardt disease 1 Cone-rod dystrophy 3 not provided |
Variation | info |
Gene | ABCA4 |
CLNDBN | Stargardt disease Stargardt disease 1 Cone-rod dystrophy 3 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.94474323A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008370.3, RCV000008371.3, RCV000008372.3, RCV000085762.1, |