rs28940276
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28940276(A;A) |
Make rs28940276(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 61951831 |
Gene | BEST1 |
is a | snp |
is | mentioned by |
dbSNP | rs28940276 |
dbSNP (classic) | rs28940276 |
ClinGen | rs28940276 |
ebi | rs28940276 |
HLI | rs28940276 |
Exac | rs28940276 |
Gnomad | rs28940276 |
Varsome | rs28940276 |
LitVar | rs28940276 |
Map | rs28940276 |
PheGenI | rs28940276 |
Biobank | rs28940276 |
1000 genomes | rs28940276 |
hgdp | rs28940276 |
ensembl | rs28940276 |
geneview | rs28940276 |
scholar | rs28940276 |
rs28940276 | |
pharmgkb | rs28940276 |
gwascentral | rs28940276 |
openSNP | rs28940276 |
23andMe | rs28940276 |
SNPshot | rs28940276 |
SNPdbe | rs28940276 |
MSV3d | rs28940276 |
GWAS Ctlg | rs28940276 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28940276(A;A) |
Alt | rs28940276(A;A) |
Reference | Rs28940276(G;G) |
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.61719303G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002855.3, RCV000086110.1, |