rs144288844
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs144288844(C;T) |
Make rs144288844(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 91937058 |
Gene | FBLN5 |
is a | snp |
is | mentioned by |
dbSNP | rs144288844 |
dbSNP (classic) | rs144288844 |
ClinGen | rs144288844 |
ebi | rs144288844 |
HLI | rs144288844 |
Exac | rs144288844 |
Gnomad | rs144288844 |
Varsome | rs144288844 |
LitVar | rs144288844 |
Map | rs144288844 |
PheGenI | rs144288844 |
Biobank | rs144288844 |
1000 genomes | rs144288844 |
hgdp | rs144288844 |
ensembl | rs144288844 |
geneview | rs144288844 |
scholar | rs144288844 |
rs144288844 | |
pharmgkb | rs144288844 |
gwascentral | rs144288844 |
openSNP | rs144288844 |
23andMe | rs144288844 |
SNPshot | rs144288844 |
SNPdbe | rs144288844 |
MSV3d | rs144288844 |
GWAS Ctlg | rs144288844 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144288844(T;T) |
Alt | rs144288844(T;T) |
Reference | Rs144288844(C;C) |
Significance | Pathogenic |
Disease | Age-related macular degeneration 3 Macular degeneration |
Variation | info |
Gene | FBLN5 |
CLNDBN | Age-related macular degeneration 3 Macular degeneration |
Reversed | 0 |
HGVS | NC_000014.8:g.92403402C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202614.2, RCV000288309.1, |