rs28941468
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28941468(A;A) |
Make rs28941468(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 61959526 |
Gene | BEST1, LOC107984334 |
is a | snp |
is | mentioned by |
dbSNP | rs28941468 |
dbSNP (classic) | rs28941468 |
ClinGen | rs28941468 |
ebi | rs28941468 |
HLI | rs28941468 |
Exac | rs28941468 |
Gnomad | rs28941468 |
Varsome | rs28941468 |
LitVar | rs28941468 |
Map | rs28941468 |
PheGenI | rs28941468 |
Biobank | rs28941468 |
1000 genomes | rs28941468 |
hgdp | rs28941468 |
ensembl | rs28941468 |
geneview | rs28941468 |
scholar | rs28941468 |
rs28941468 | |
pharmgkb | rs28941468 |
gwascentral | rs28941468 |
openSNP | rs28941468 |
23andMe | rs28941468 |
SNPshot | rs28941468 |
SNPdbe | rs28941468 |
MSV3d | rs28941468 |
GWAS Ctlg | rs28941468 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28941468(A;A) |
Alt | rs28941468(A;A) |
Reference | Rs28941468(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.61726998G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002848.4, RCV000086186.1, |