rs1805142
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1805142(C;C) |
Make rs1805142(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 61955825 |
Gene | BEST1 |
is a | snp |
is | mentioned by |
dbSNP | rs1805142 |
dbSNP (classic) | rs1805142 |
ClinGen | rs1805142 |
ebi | rs1805142 |
HLI | rs1805142 |
Exac | rs1805142 |
Gnomad | rs1805142 |
Varsome | rs1805142 |
LitVar | rs1805142 |
Map | rs1805142 |
PheGenI | rs1805142 |
Biobank | rs1805142 |
1000 genomes | rs1805142 |
hgdp | rs1805142 |
ensembl | rs1805142 |
geneview | rs1805142 |
scholar | rs1805142 |
rs1805142 | |
pharmgkb | rs1805142 |
gwascentral | rs1805142 |
openSNP | rs1805142 |
23andMe | rs1805142 |
SNPshot | rs1805142 |
SNPdbe | rs1805142 |
MSV3d | rs1805142 |
GWAS Ctlg | rs1805142 |
Merged from | Rs28940277 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1805142(C;C) |
Alt | rs1805142(C;C) |
Reference | Rs1805142(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.61723297G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002856.3, RCV000086129.1, |