rs61750152
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61750152(C;T) |
Make rs61750152(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 94025011 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61750152 |
dbSNP (classic) | rs61750152 |
ClinGen | rs61750152 |
ebi | rs61750152 |
HLI | rs61750152 |
Exac | rs61750152 |
Gnomad | rs61750152 |
Varsome | rs61750152 |
LitVar | rs61750152 |
Map | rs61750152 |
PheGenI | rs61750152 |
Biobank | rs61750152 |
1000 genomes | rs61750152 |
hgdp | rs61750152 |
ensembl | rs61750152 |
geneview | rs61750152 |
scholar | rs61750152 |
rs61750152 | |
pharmgkb | rs61750152 |
gwascentral | rs61750152 |
openSNP | rs61750152 |
23andMe | rs61750152 |
SNPshot | rs61750152 |
SNPdbe | rs61750152 |
MSV3d | rs61750152 |
GWAS Ctlg | rs61750152 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61750152(T;T) |
Alt | rs61750152(T;T) |
Reference | Rs61750152(C;C) |
Significance | Pathogenic |
Disease | not provided Stargardt disease 1 Retinitis pigmentosa 19 |
Variation | info |
Gene | ABCA4 |
CLNDBN | not provided Stargardt disease 1 Retinitis pigmentosa 19 |
Reversed | 1 |
HGVS | NC_000001.10:g.94490567G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000085656.2, RCV000177509.1, RCV000210286.1, |