rs375072557
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs375072557(A;A) |
Make rs375072557(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 123371419 |
Gene | CRB2 |
is a | snp |
is | mentioned by |
dbSNP | rs375072557 |
dbSNP (classic) | rs375072557 |
ClinGen | rs375072557 |
ebi | rs375072557 |
HLI | rs375072557 |
Exac | rs375072557 |
Gnomad | rs375072557 |
Varsome | rs375072557 |
LitVar | rs375072557 |
Map | rs375072557 |
PheGenI | rs375072557 |
Biobank | rs375072557 |
1000 genomes | rs375072557 |
hgdp | rs375072557 |
ensembl | rs375072557 |
geneview | rs375072557 |
scholar | rs375072557 |
rs375072557 | |
pharmgkb | rs375072557 |
gwascentral | rs375072557 |
openSNP | rs375072557 |
23andMe | rs375072557 |
SNPshot | rs375072557 |
SNPdbe | rs375072557 |
MSV3d | rs375072557 |
GWAS Ctlg | rs375072557 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375072557(A;A) |
Alt | rs375072557(A;A) |
Reference | Rs375072557(G;G) |
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.126133698G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000157659.3, |