rs201223321
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs201223321(A;T) |
Make rs201223321(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 94055132 |
Gene | ABCA4 |
is a | snp |
is | mentioned by |
dbSNP | rs201223321 |
dbSNP (classic) | rs201223321 |
ClinGen | rs201223321 |
ebi | rs201223321 |
HLI | rs201223321 |
Exac | rs201223321 |
Gnomad | rs201223321 |
Varsome | rs201223321 |
LitVar | rs201223321 |
Map | rs201223321 |
PheGenI | rs201223321 |
Biobank | rs201223321 |
1000 genomes | rs201223321 |
hgdp | rs201223321 |
ensembl | rs201223321 |
geneview | rs201223321 |
scholar | rs201223321 |
rs201223321 | |
pharmgkb | rs201223321 |
gwascentral | rs201223321 |
openSNP | rs201223321 |
23andMe | rs201223321 |
SNPshot | rs201223321 |
SNPdbe | rs201223321 |
MSV3d | rs201223321 |
GWAS Ctlg | rs201223321 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201223321(G;G) rs201223321(T;T) |
Alt | rs201223321(G;G) rs201223321(T;T) |
Reference | Rs201223321(A;A) |
Significance | Probable-Pathogenic |
Disease | Retinal dystrophy not provided |
Variation | info |
Gene | ABCA4 |
CLNDBN | Retinal dystrophy not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.94520688A>T |
CLNSRC | |
CLNACC | RCV000225582.1, RCV000481787.1, |