rs281865528
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs281865528(-;-) |
Make rs281865528(-;CA) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 61962624 |
Gene | BEST1 |
is a | snp |
is | mentioned by |
dbSNP | rs281865528 |
dbSNP (classic) | rs281865528 |
ClinGen | rs281865528 |
ebi | rs281865528 |
HLI | rs281865528 |
Exac | rs281865528 |
Gnomad | rs281865528 |
Varsome | rs281865528 |
LitVar | rs281865528 |
Map | rs281865528 |
PheGenI | rs281865528 |
Biobank | rs281865528 |
1000 genomes | rs281865528 |
hgdp | rs281865528 |
ensembl | rs281865528 |
geneview | rs281865528 |
scholar | rs281865528 |
rs281865528 | |
pharmgkb | rs281865528 |
gwascentral | rs281865528 |
openSNP | rs281865528 |
23andMe | rs281865528 |
SNPshot | rs281865528 |
SNPdbe | rs281865528 |
MSV3d | rs281865528 |
GWAS Ctlg | rs281865528 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865528(-;-) |
Alt | rs281865528(-;-) |
Reference | Rs281865528(CA;CA) |
Significance | Pathogenic |
Disease | Vitelliform macular dystrophy type 2 not provided |
Variation | info |
Gene | BEST1 |
CLNDBN | Vitelliform macular dystrophy type 2 not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.61730096_61730097delCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002861.4, RCV000086087.1, |