rs28939072
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs28939072(C;C) |
Make rs28939072(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 91891334 |
Gene | FBLN5 |
is a | snp |
is | mentioned by |
dbSNP | rs28939072 |
dbSNP (classic) | rs28939072 |
ClinGen | rs28939072 |
ebi | rs28939072 |
HLI | rs28939072 |
Exac | rs28939072 |
Gnomad | rs28939072 |
Varsome | rs28939072 |
LitVar | rs28939072 |
Map | rs28939072 |
PheGenI | rs28939072 |
Biobank | rs28939072 |
1000 genomes | rs28939072 |
hgdp | rs28939072 |
ensembl | rs28939072 |
geneview | rs28939072 |
scholar | rs28939072 |
rs28939072 | |
pharmgkb | rs28939072 |
gwascentral | rs28939072 |
openSNP | rs28939072 |
23andMe | rs28939072 |
SNPshot | rs28939072 |
SNPdbe | rs28939072 |
MSV3d | rs28939072 |
GWAS Ctlg | rs28939072 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28939072(C;C) |
Alt | rs28939072(C;C) |
Reference | Rs28939072(T;T) |
Significance | Pathogenic |
Disease | Age-related macular degeneration 3 |
Variation | info |
Gene | FBLN5 |
CLNDBN | Age-related macular degeneration 3 |
Reversed | 1 |
HGVS | NC_000014.8:g.92357678A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005814.4, |