rs797044808
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs797044808(C;T) |
Make rs797044808(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 50070025 |
Gene | CLCN5 |
is a | snp |
is | mentioned by |
dbSNP | rs797044808 |
dbSNP (classic) | rs797044808 |
ClinGen | rs797044808 |
ebi | rs797044808 |
HLI | rs797044808 |
Exac | rs797044808 |
Gnomad | rs797044808 |
Varsome | rs797044808 |
LitVar | rs797044808 |
Map | rs797044808 |
PheGenI | rs797044808 |
Biobank | rs797044808 |
1000 genomes | rs797044808 |
hgdp | rs797044808 |
ensembl | rs797044808 |
geneview | rs797044808 |
scholar | rs797044808 |
rs797044808 | |
pharmgkb | rs797044808 |
gwascentral | rs797044808 |
openSNP | rs797044808 |
23andMe | rs797044808 |
SNPshot | rs797044808 |
SNPdbe | rs797044808 |
MSV3d | rs797044808 |
GWAS Ctlg | rs797044808 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044808(T;T) |
Alt | rs797044808(T;T) |
Reference | Rs797044808(C;C) |
Significance | Pathogenic |
Disease | Dent disease 1 |
Variation | info |
Gene | CLCN5 |
CLNDBN | Dent disease 1 |
Reversed | 0 |
HGVS | NC_000023.10:g.49834680C>T |
CLNSRC | |
CLNACC | RCV000192273.1, |