rs1801581
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1801581(A;A) |
Make rs1801581(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 94047009 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs1801581 |
dbSNP (classic) | rs1801581 |
ClinGen | rs1801581 |
ebi | rs1801581 |
HLI | rs1801581 |
Exac | rs1801581 |
Gnomad | rs1801581 |
Varsome | rs1801581 |
LitVar | rs1801581 |
Map | rs1801581 |
PheGenI | rs1801581 |
Biobank | rs1801581 |
1000 genomes | rs1801581 |
hgdp | rs1801581 |
ensembl | rs1801581 |
geneview | rs1801581 |
scholar | rs1801581 |
rs1801581 | |
pharmgkb | rs1801581 |
gwascentral | rs1801581 |
openSNP | rs1801581 |
23andMe | rs1801581 |
SNPshot | rs1801581 |
SNPdbe | rs1801581 |
MSV3d | rs1801581 |
GWAS Ctlg | rs1801581 |
GMAF | 0.01469 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1801581(A;A) rs1801581(T;T) |
Alt | rs1801581(A;A) rs1801581(T;T) |
Reference | Rs1801581(G;G) |
Significance | Other |
Disease | MACULAR DEGENERATION Stargardt disease 1 not provided not specified Macular degeneration Cone-Rod Dystrophy Retinitis Pigmentosa Stargardt Disease |
Variation | info |
Gene | ABCA4 |
CLNDBN | MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO Stargardt disease 1 not provided not specified Macular degeneration Cone-Rod Dystrophy, Recessive Retinitis Pigmentosa, Recessive Stargardt Disease, Recessive |
Reversed | 1 |
HGVS | NC_000001.10:g.94512565C>T |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008374.4, RCV000008375.4, RCV000085512.3, RCV000152706.4, RCV000294335.1, RCV000349295.1, RCV000392936.1, RCV000399411.1, |