rs61749438
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs61749438(A;A) |
Make rs61749438(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 94055133 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs61749438 |
dbSNP (classic) | rs61749438 |
ClinGen | rs61749438 |
ebi | rs61749438 |
HLI | rs61749438 |
Exac | rs61749438 |
Gnomad | rs61749438 |
Varsome | rs61749438 |
LitVar | rs61749438 |
Map | rs61749438 |
PheGenI | rs61749438 |
Biobank | rs61749438 |
1000 genomes | rs61749438 |
hgdp | rs61749438 |
ensembl | rs61749438 |
geneview | rs61749438 |
scholar | rs61749438 |
rs61749438 | |
pharmgkb | rs61749438 |
gwascentral | rs61749438 |
openSNP | rs61749438 |
23andMe | rs61749438 |
SNPshot | rs61749438 |
SNPdbe | rs61749438 |
MSV3d | rs61749438 |
GWAS Ctlg | rs61749438 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61749438(A;A) |
Alt | rs61749438(A;A) |
Reference | Rs61749438(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.94520689C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008334.5, RCV000085489.1, |