rs281865377
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs281865377(-;C) |
Make rs281865377(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 94029446 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs281865377 |
dbSNP (classic) | rs281865377 |
ClinGen | rs281865377 |
ebi | rs281865377 |
HLI | rs281865377 |
Exac | rs281865377 |
Gnomad | rs281865377 |
Varsome | rs281865377 |
LitVar | rs281865377 |
Map | rs281865377 |
PheGenI | rs281865377 |
Biobank | rs281865377 |
1000 genomes | rs281865377 |
hgdp | rs281865377 |
ensembl | rs281865377 |
geneview | rs281865377 |
scholar | rs281865377 |
rs281865377 | |
pharmgkb | rs281865377 |
gwascentral | rs281865377 |
openSNP | rs281865377 |
23andMe | rs281865377 |
SNPshot | rs281865377 |
SNPdbe | rs281865377 |
MSV3d | rs281865377 |
GWAS Ctlg | rs281865377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865377(C;C) |
Alt | rs281865377(C;C) |
Reference | Rs281865377(-;-) |
Significance | Pathogenic |
Disease | not provided Stargardt disease 1 |
Variation | info |
Gene | ABCA4 |
CLNDBN | not provided Stargardt disease 1 |
Reversed | 1 |
HGVS | NC_000001.10:g.94495003dupG |
CLNSRC | |
CLNACC | RCV000085645.1, RCV000210298.1, |