rs730880377
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730880377(C;T) |
Make rs730880377(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 123370950 |
Gene | CRB2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880377 |
dbSNP (classic) | rs730880377 |
ClinGen | rs730880377 |
ebi | rs730880377 |
HLI | rs730880377 |
Exac | rs730880377 |
Gnomad | rs730880377 |
Varsome | rs730880377 |
LitVar | rs730880377 |
Map | rs730880377 |
PheGenI | rs730880377 |
Biobank | rs730880377 |
1000 genomes | rs730880377 |
hgdp | rs730880377 |
ensembl | rs730880377 |
geneview | rs730880377 |
scholar | rs730880377 |
rs730880377 | |
pharmgkb | rs730880377 |
gwascentral | rs730880377 |
openSNP | rs730880377 |
23andMe | rs730880377 |
SNPshot | rs730880377 |
SNPdbe | rs730880377 |
MSV3d | rs730880377 |
GWAS Ctlg | rs730880377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880377(T;T) |
Alt | rs730880377(T;T) |
Reference | Rs730880377(C;C) |
Significance | Pathogenic |
Disease | Ventriculomegaly with cystic kidney disease |
Variation | info |
Gene | CRB2 |
CLNDBN | Ventriculomegaly with cystic kidney disease |
Reversed | 0 |
HGVS | NC_000009.11:g.126133229C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000157662.3, |