rs281865379
From SNPedia
Merged into | rs61752410 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281865379(-;-) |
Make rs281865379(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 94046951 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs281865379 |
dbSNP (classic) | rs281865379 |
ClinGen | rs281865379 |
ebi | rs281865379 |
HLI | rs281865379 |
Exac | rs281865379 |
Gnomad | rs281865379 |
Varsome | rs281865379 |
LitVar | rs281865379 |
Map | rs281865379 |
PheGenI | rs281865379 |
Biobank | rs281865379 |
1000 genomes | rs281865379 |
hgdp | rs281865379 |
ensembl | rs281865379 |
geneview | rs281865379 |
scholar | rs281865379 |
rs281865379 | |
pharmgkb | rs281865379 |
gwascentral | rs281865379 |
openSNP | rs281865379 |
23andMe | rs281865379 |
SNPshot | rs281865379 |
SNPdbe | rs281865379 |
MSV3d | rs281865379 |
GWAS Ctlg | rs281865379 |
Status | Merged into rs61752410 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs281865379(G;G) |
Significance | Pathogenic |
Disease | Cone-rod dystrophy 3 not provided |
Variation | info |
Gene | ABCA4 |
CLNDBN | Cone-rod dystrophy 3 not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.94512505delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008363.3, RCV000085520.1, |