rs770519542
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 5 | Polycystic Kidney Disease (predicted) |
(C;C) | 0 | common in clinvar |
Make rs770519542(C;T) |
Make rs770519542(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 62630788 |
Gene | GANAB |
is a | snp |
is | mentioned by |
dbSNP | rs770519542 |
dbSNP (classic) | rs770519542 |
ClinGen | rs770519542 |
ebi | rs770519542 |
HLI | rs770519542 |
Exac | rs770519542 |
Gnomad | rs770519542 |
Varsome | rs770519542 |
LitVar | rs770519542 |
Map | rs770519542 |
PheGenI | rs770519542 |
Biobank | rs770519542 |
1000 genomes | rs770519542 |
hgdp | rs770519542 |
ensembl | rs770519542 |
geneview | rs770519542 |
scholar | rs770519542 |
rs770519542 | |
pharmgkb | rs770519542 |
gwascentral | rs770519542 |
openSNP | rs770519542 |
23andMe | rs770519542 |
SNPshot | rs770519542 |
SNPdbe | rs770519542 |
MSV3d | rs770519542 |
GWAS Ctlg | rs770519542 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs770519542(A;A) rs770519542(T;T) |
Alt | rs770519542(A;A) rs770519542(T;T) |
Reference | Rs770519542(C;C) |
Significance | Pathogenic |
Disease | Polycystic kidney disease 3 |
Variation | info |
Gene | GANAB |
CLNDBN | Polycystic kidney disease 3 |
Reversed | 0 |
HGVS | NC_000011.9:g.62398260C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239504.1, |