rs121434303
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121434303(A;A) |
Make rs121434303(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 91870336 |
Gene | FBLN5 |
is a | snp |
is | mentioned by |
dbSNP | rs121434303 |
dbSNP (classic) | rs121434303 |
ClinGen | rs121434303 |
ebi | rs121434303 |
HLI | rs121434303 |
Exac | rs121434303 |
Gnomad | rs121434303 |
Varsome | rs121434303 |
LitVar | rs121434303 |
Map | rs121434303 |
PheGenI | rs121434303 |
Biobank | rs121434303 |
1000 genomes | rs121434303 |
hgdp | rs121434303 |
ensembl | rs121434303 |
geneview | rs121434303 |
scholar | rs121434303 |
rs121434303 | |
pharmgkb | rs121434303 |
gwascentral | rs121434303 |
openSNP | rs121434303 |
23andMe | rs121434303 |
SNPshot | rs121434303 |
SNPdbe | rs121434303 |
MSV3d | rs121434303 |
GWAS Ctlg | rs121434303 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434303(A;A) |
Alt | rs121434303(A;A) |
Reference | Rs121434303(G;G) |
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.92336680C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005817.4, |