rs281874732
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281874732(-;-) |
Make rs281874732(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 108686067 |
Gene | COL4A5 |
is a | snp |
is | mentioned by |
dbSNP | rs281874732 |
dbSNP (classic) | rs281874732 |
ClinGen | rs281874732 |
ebi | rs281874732 |
HLI | rs281874732 |
Exac | rs281874732 |
Gnomad | rs281874732 |
Varsome | rs281874732 |
LitVar | rs281874732 |
Map | rs281874732 |
PheGenI | rs281874732 |
Biobank | rs281874732 |
1000 genomes | rs281874732 |
hgdp | rs281874732 |
ensembl | rs281874732 |
geneview | rs281874732 |
scholar | rs281874732 |
rs281874732 | |
pharmgkb | rs281874732 |
gwascentral | rs281874732 |
openSNP | rs281874732 |
23andMe | rs281874732 |
SNPshot | rs281874732 |
SNPdbe | rs281874732 |
MSV3d | rs281874732 |
GWAS Ctlg | rs281874732 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281874732(-;-) |
Alt | rs281874732(-;-) |
Reference | Rs281874732(G;G) |
Significance | Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A5 |
CLNDBN | Alport syndrome, X-linked recessive |
Reversed | 0 |
HGVS | NC_000023.10:g.107929297delG |
CLNSRC | ClinVar |
CLNACC | RCV000032082.1, |
[PMID 21505094] Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.