rs193922496
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs193922496(-;-) |
Make rs193922496(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 49955577 |
Gene | AQP2, LOC101927318 |
is a | snp |
is | mentioned by |
dbSNP | rs193922496 |
dbSNP (classic) | rs193922496 |
ClinGen | rs193922496 |
ebi | rs193922496 |
HLI | rs193922496 |
Exac | rs193922496 |
Gnomad | rs193922496 |
Varsome | rs193922496 |
LitVar | rs193922496 |
Map | rs193922496 |
PheGenI | rs193922496 |
Biobank | rs193922496 |
1000 genomes | rs193922496 |
hgdp | rs193922496 |
ensembl | rs193922496 |
geneview | rs193922496 |
scholar | rs193922496 |
rs193922496 | |
pharmgkb | rs193922496 |
gwascentral | rs193922496 |
openSNP | rs193922496 |
23andMe | rs193922496 |
SNPshot | rs193922496 |
SNPdbe | rs193922496 |
MSV3d | rs193922496 |
GWAS Ctlg | rs193922496 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922496(-;-) |
Alt | rs193922496(-;-) |
Reference | Rs193922496(C;C) |
Significance | Probable-Pathogenic |
Disease | Nephrogenic diabetes insipidus |
Variation | info |
Gene | LOC101927318 AQP2 |
CLNDBN | Nephrogenic diabetes insipidus |
Reversed | 0 |
HGVS | NC_000012.11:g.50349360delC |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029346.1, |