rs281874715
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281874715(G;T) |
Make rs281874715(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 108665588 |
Gene | COL4A5 |
is a | snp |
is | mentioned by |
dbSNP | rs281874715 |
dbSNP (classic) | rs281874715 |
ClinGen | rs281874715 |
ebi | rs281874715 |
HLI | rs281874715 |
Exac | rs281874715 |
Gnomad | rs281874715 |
Varsome | rs281874715 |
LitVar | rs281874715 |
Map | rs281874715 |
PheGenI | rs281874715 |
Biobank | rs281874715 |
1000 genomes | rs281874715 |
hgdp | rs281874715 |
ensembl | rs281874715 |
geneview | rs281874715 |
scholar | rs281874715 |
rs281874715 | |
pharmgkb | rs281874715 |
gwascentral | rs281874715 |
openSNP | rs281874715 |
23andMe | rs281874715 |
SNPshot | rs281874715 |
SNPdbe | rs281874715 |
MSV3d | rs281874715 |
GWAS Ctlg | rs281874715 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281874715(T;T) |
Alt | rs281874715(T;T) |
Reference | Rs281874715(G;G) |
Significance | Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A5 |
CLNDBN | Alport syndrome, X-linked recessive |
Reversed | 0 |
HGVS | NC_000023.10:g.107908818G>T |
CLNSRC | ARUP COL4A5 |
CLNACC | RCV000021511.1, |
[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.
[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.