rs147412276
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs147412276(A;A) |
Make rs147412276(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 123376950 |
Gene | CRB2 |
is a | snp |
is | mentioned by |
dbSNP | rs147412276 |
dbSNP (classic) | rs147412276 |
ClinGen | rs147412276 |
ebi | rs147412276 |
HLI | rs147412276 |
Exac | rs147412276 |
Gnomad | rs147412276 |
Varsome | rs147412276 |
LitVar | rs147412276 |
Map | rs147412276 |
PheGenI | rs147412276 |
Biobank | rs147412276 |
1000 genomes | rs147412276 |
hgdp | rs147412276 |
ensembl | rs147412276 |
geneview | rs147412276 |
scholar | rs147412276 |
rs147412276 | |
pharmgkb | rs147412276 |
gwascentral | rs147412276 |
openSNP | rs147412276 |
23andMe | rs147412276 |
SNPshot | rs147412276 |
SNPdbe | rs147412276 |
MSV3d | rs147412276 |
GWAS Ctlg | rs147412276 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147412276(A;A) rs147412276(C;C) |
Alt | rs147412276(A;A) rs147412276(C;C) |
Reference | Rs147412276(G;G) |
Significance | Pathogenic |
Disease | Focal segmental glomerulosclerosis 9 |
Variation | info |
Gene | CRB2 |
CLNDBN | Focal segmental glomerulosclerosis 9 |
Reversed | 0 |
HGVS | NC_000009.11:g.126139229G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000157658.3, |