rs273585645
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs273585645(C;C) |
Make rs273585645(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 50081798 |
Gene | CLCN5 |
is a | snp |
is | mentioned by |
dbSNP | rs273585645 |
dbSNP (classic) | rs273585645 |
ClinGen | rs273585645 |
ebi | rs273585645 |
HLI | rs273585645 |
Exac | rs273585645 |
Gnomad | rs273585645 |
Varsome | rs273585645 |
LitVar | rs273585645 |
Map | rs273585645 |
PheGenI | rs273585645 |
Biobank | rs273585645 |
1000 genomes | rs273585645 |
hgdp | rs273585645 |
ensembl | rs273585645 |
geneview | rs273585645 |
scholar | rs273585645 |
rs273585645 | |
pharmgkb | rs273585645 |
gwascentral | rs273585645 |
openSNP | rs273585645 |
23andMe | rs273585645 |
SNPshot | rs273585645 |
SNPdbe | rs273585645 |
MSV3d | rs273585645 |
GWAS Ctlg | rs273585645 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs273585645(C;C) |
Alt | rs273585645(C;C) |
Reference | Rs273585645(T;T) |
Significance | Pathogenic |
Disease | Dent disease 1 |
Variation | info |
Gene | CLCN5 |
CLNDBN | Dent disease 1 |
Reversed | 0 |
HGVS | NC_000023.10:g.49846455T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000033876.2, |