rs104886233
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs104886233(A;T) |
Make rs104886233(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 108655373 |
Gene | COL4A5 |
is a | snp |
is | mentioned by |
dbSNP | rs104886233 |
dbSNP (classic) | rs104886233 |
ClinGen | rs104886233 |
ebi | rs104886233 |
HLI | rs104886233 |
Exac | rs104886233 |
Gnomad | rs104886233 |
Varsome | rs104886233 |
LitVar | rs104886233 |
Map | rs104886233 |
PheGenI | rs104886233 |
Biobank | rs104886233 |
1000 genomes | rs104886233 |
hgdp | rs104886233 |
ensembl | rs104886233 |
geneview | rs104886233 |
scholar | rs104886233 |
rs104886233 | |
pharmgkb | rs104886233 |
gwascentral | rs104886233 |
openSNP | rs104886233 |
23andMe | rs104886233 |
SNPshot | rs104886233 |
SNPdbe | rs104886233 |
MSV3d | rs104886233 |
GWAS Ctlg | rs104886233 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104886233(T;T) |
Alt | rs104886233(T;T) |
Reference | Rs104886233(A;A) |
Significance | Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A5 |
CLNDBN | Alport syndrome, X-linked recessive |
Reversed | 0 |
HGVS | NC_000023.10:g.107898603A>T |
CLNSRC | ARUP COL4A5 |
CLNACC | RCV000021494.1, |
[PMID 9848783] High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.