rs606231373
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs606231373(-;T) |
Make rs606231373(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 108687528 |
Gene | COL4A5 |
is a | snp |
is | mentioned by |
dbSNP | rs606231373 |
dbSNP (classic) | rs606231373 |
ClinGen | rs606231373 |
ebi | rs606231373 |
HLI | rs606231373 |
Exac | rs606231373 |
Gnomad | rs606231373 |
Varsome | rs606231373 |
LitVar | rs606231373 |
Map | rs606231373 |
PheGenI | rs606231373 |
Biobank | rs606231373 |
1000 genomes | rs606231373 |
hgdp | rs606231373 |
ensembl | rs606231373 |
geneview | rs606231373 |
scholar | rs606231373 |
rs606231373 | |
pharmgkb | rs606231373 |
gwascentral | rs606231373 |
openSNP | rs606231373 |
23andMe | rs606231373 |
SNPshot | rs606231373 |
SNPdbe | rs606231373 |
MSV3d | rs606231373 |
GWAS Ctlg | rs606231373 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231373(T;T) |
Alt | rs606231373(T;T) |
Reference | Rs606231373(-;-) |
Significance | Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A5 |
CLNDBN | Alport syndrome, X-linked recessive |
Reversed | 0 |
HGVS | NC_000023.10:g.107930758dupT |
CLNSRC | |
CLNACC | RCV000021614.1, |