rs61749427
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61749427(C;C) |
Make rs61749427(C;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 94060536 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61749427 |
dbSNP (classic) | rs61749427 |
ClinGen | rs61749427 |
ebi | rs61749427 |
HLI | rs61749427 |
Exac | rs61749427 |
Gnomad | rs61749427 |
Varsome | rs61749427 |
LitVar | rs61749427 |
Map | rs61749427 |
PheGenI | rs61749427 |
Biobank | rs61749427 |
1000 genomes | rs61749427 |
hgdp | rs61749427 |
ensembl | rs61749427 |
geneview | rs61749427 |
scholar | rs61749427 |
rs61749427 | |
pharmgkb | rs61749427 |
gwascentral | rs61749427 |
openSNP | rs61749427 |
23andMe | rs61749427 |
SNPshot | rs61749427 |
SNPdbe | rs61749427 |
MSV3d | rs61749427 |
GWAS Ctlg | rs61749427 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61749427(C;C) rs61749427(T;T) |
Alt | rs61749427(C;C) rs61749427(T;T) |
Reference | Rs61749427(G;G) |
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.94526092C>A; NC_000001.10:g.94526092C>G |
CLNSRC | |
CLNACC | RCV000408563.1, RCV000085465.1, |