rs61750641
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of a mutation for Stargardt disease |
(G;G) | 0 | common in clinvar |
Make rs61750641(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 94005499 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61750641 |
dbSNP (classic) | rs61750641 |
ClinGen | rs61750641 |
ebi | rs61750641 |
HLI | rs61750641 |
Exac | rs61750641 |
Gnomad | rs61750641 |
Varsome | rs61750641 |
LitVar | rs61750641 |
Map | rs61750641 |
PheGenI | rs61750641 |
Biobank | rs61750641 |
1000 genomes | rs61750641 |
hgdp | rs61750641 |
ensembl | rs61750641 |
geneview | rs61750641 |
scholar | rs61750641 |
rs61750641 | |
pharmgkb | rs61750641 |
gwascentral | rs61750641 |
openSNP | rs61750641 |
23andMe | rs61750641 |
SNPshot | rs61750641 |
SNPdbe | rs61750641 |
MSV3d | rs61750641 |
GWAS Ctlg | rs61750641 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs61750641(A;A) |
Alt | rs61750641(A;A) |
Reference | Rs61750641(G;G) |
Significance | Other |
Disease | not provided Stargardt disease 1 |
Variation | info |
Gene | ABCA4 |
CLNDBN | not provided Stargardt disease 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.94471055C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000085787.2, RCV000178545.3, RCV000408532.1, |