rs28935496
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28935496(C;T) |
Make rs28935496(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 153905843 |
Gene | AVPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs28935496 |
dbSNP (classic) | rs28935496 |
ClinGen | rs28935496 |
ebi | rs28935496 |
HLI | rs28935496 |
Exac | rs28935496 |
Gnomad | rs28935496 |
Varsome | rs28935496 |
LitVar | rs28935496 |
Map | rs28935496 |
PheGenI | rs28935496 |
Biobank | rs28935496 |
1000 genomes | rs28935496 |
hgdp | rs28935496 |
ensembl | rs28935496 |
geneview | rs28935496 |
scholar | rs28935496 |
rs28935496 | |
pharmgkb | rs28935496 |
gwascentral | rs28935496 |
openSNP | rs28935496 |
23andMe | rs28935496 |
SNPshot | rs28935496 |
SNPdbe | rs28935496 |
MSV3d | rs28935496 |
GWAS Ctlg | rs28935496 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28935496(T;T) |
Alt | rs28935496(T;T) |
Reference | Rs28935496(C;C) |
Significance | Pathogenic |
Disease | Nephrogenic diabetes insipidus |
Variation | info |
Gene | AVPR2 |
CLNDBN | Nephrogenic diabetes insipidus, X-linked |
Reversed | 0 |
HGVS | NC_000023.10:g.153171297C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011587.3, |