rs281865252
From SNPedia
Merged into | rs121918283 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TCA;TCA) | 0 | common in clinvar |
Make rs281865252(-;-) |
Make rs281865252(-;TCA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 61959511 |
Gene | BEST1 |
is a | snp |
is | mentioned by |
dbSNP | rs281865252 |
dbSNP (classic) | rs281865252 |
ClinGen | rs281865252 |
ebi | rs281865252 |
HLI | rs281865252 |
Exac | rs281865252 |
Gnomad | rs281865252 |
Varsome | rs281865252 |
LitVar | rs281865252 |
Map | rs281865252 |
PheGenI | rs281865252 |
Biobank | rs281865252 |
1000 genomes | rs281865252 |
hgdp | rs281865252 |
ensembl | rs281865252 |
geneview | rs281865252 |
scholar | rs281865252 |
rs281865252 | |
pharmgkb | rs281865252 |
gwascentral | rs281865252 |
openSNP | rs281865252 |
23andMe | rs281865252 |
SNPshot | rs281865252 |
SNPdbe | rs281865252 |
MSV3d | rs281865252 |
GWAS Ctlg | rs281865252 |
Status | Merged into rs121918283 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs281865252(TCA;TCA) |
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.61726986_61726988delTCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002854.4, RCV000086179.1, |