rs104894752
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs104894752(A;G) |
Make rs104894752(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 153906345 |
Gene | AVPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs104894752 |
dbSNP (classic) | rs104894752 |
ClinGen | rs104894752 |
ebi | rs104894752 |
HLI | rs104894752 |
Exac | rs104894752 |
Gnomad | rs104894752 |
Varsome | rs104894752 |
LitVar | rs104894752 |
Map | rs104894752 |
PheGenI | rs104894752 |
Biobank | rs104894752 |
1000 genomes | rs104894752 |
hgdp | rs104894752 |
ensembl | rs104894752 |
geneview | rs104894752 |
scholar | rs104894752 |
rs104894752 | |
pharmgkb | rs104894752 |
gwascentral | rs104894752 |
openSNP | rs104894752 |
23andMe | rs104894752 |
SNPshot | rs104894752 |
SNPdbe | rs104894752 |
MSV3d | rs104894752 |
GWAS Ctlg | rs104894752 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894752(G;G) |
Alt | rs104894752(G;G) |
Reference | Rs104894752(A;A) |
Significance | Pathogenic |
Disease | Nephrogenic diabetes insipidus |
Variation | info |
Gene | AVPR2 |
CLNDBN | Nephrogenic diabetes insipidus, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.153171799A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011590.2, |