rs202128397
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs202128397(C;T) |
Make rs202128397(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 123370935 |
Gene | CRB2 |
is a | snp |
is | mentioned by |
dbSNP | rs202128397 |
dbSNP (classic) | rs202128397 |
ClinGen | rs202128397 |
ebi | rs202128397 |
HLI | rs202128397 |
Exac | rs202128397 |
Gnomad | rs202128397 |
Varsome | rs202128397 |
LitVar | rs202128397 |
Map | rs202128397 |
PheGenI | rs202128397 |
Biobank | rs202128397 |
1000 genomes | rs202128397 |
hgdp | rs202128397 |
ensembl | rs202128397 |
geneview | rs202128397 |
scholar | rs202128397 |
rs202128397 | |
pharmgkb | rs202128397 |
gwascentral | rs202128397 |
openSNP | rs202128397 |
23andMe | rs202128397 |
SNPshot | rs202128397 |
SNPdbe | rs202128397 |
MSV3d | rs202128397 |
GWAS Ctlg | rs202128397 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202128397(T;T) |
Alt | rs202128397(T;T) |
Reference | Rs202128397(C;C) |
Significance | Pathogenic |
Disease | Focal segmental glomerulosclerosis 9 |
Variation | info |
Gene | CRB2 |
CLNDBN | Focal segmental glomerulosclerosis 9 |
Reversed | 0 |
HGVS | NC_000009.11:g.126133214C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000157655.3, |