rs730880300
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs730880300(A;C) |
Make rs730880300(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 123371070 |
Gene | CRB2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880300 |
dbSNP (classic) | rs730880300 |
ClinGen | rs730880300 |
ebi | rs730880300 |
HLI | rs730880300 |
Exac | rs730880300 |
Gnomad | rs730880300 |
Varsome | rs730880300 |
LitVar | rs730880300 |
Map | rs730880300 |
PheGenI | rs730880300 |
Biobank | rs730880300 |
1000 genomes | rs730880300 |
hgdp | rs730880300 |
ensembl | rs730880300 |
geneview | rs730880300 |
scholar | rs730880300 |
rs730880300 | |
pharmgkb | rs730880300 |
gwascentral | rs730880300 |
openSNP | rs730880300 |
23andMe | rs730880300 |
SNPshot | rs730880300 |
SNPdbe | rs730880300 |
MSV3d | rs730880300 |
GWAS Ctlg | rs730880300 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880300(C;C) |
Alt | rs730880300(C;C) |
Reference | Rs730880300(A;A) |
Significance | Pathogenic |
Disease | Ventriculomegaly with cystic kidney disease not provided |
Variation | info |
Gene | CRB2 |
CLNDBN | Ventriculomegaly with cystic kidney disease not provided |
Reversed | 0 |
HGVS | NC_000009.11:g.126133349A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000157661.3, RCV000256019.1, |