rs121434552
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121434552(A;A) |
Make rs121434552(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 60156653 |
Gene | CA4 |
is a | snp |
is | mentioned by |
dbSNP | rs121434552 |
dbSNP (classic) | rs121434552 |
ClinGen | rs121434552 |
ebi | rs121434552 |
HLI | rs121434552 |
Exac | rs121434552 |
Gnomad | rs121434552 |
Varsome | rs121434552 |
LitVar | rs121434552 |
Map | rs121434552 |
PheGenI | rs121434552 |
Biobank | rs121434552 |
1000 genomes | rs121434552 |
hgdp | rs121434552 |
ensembl | rs121434552 |
geneview | rs121434552 |
scholar | rs121434552 |
rs121434552 | |
pharmgkb | rs121434552 |
gwascentral | rs121434552 |
openSNP | rs121434552 |
23andMe | rs121434552 |
SNPshot | rs121434552 |
SNPdbe | rs121434552 |
MSV3d | rs121434552 |
GWAS Ctlg | rs121434552 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434552(A;A) |
Alt | rs121434552(A;A) |
Reference | Rs121434552(G;G) |
Significance | Pathogenic |
Disease | Retinitis pigmentosa 17 |
Variation | info |
Gene | CA4 |
CLNDBN | Retinitis pigmentosa 17 |
Reversed | 0 |
HGVS | NC_000017.10:g.58234014G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019175.28, |