rs569681869
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs569681869(C;G) |
Make rs569681869(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 227059468 |
Gene | COL4A4 |
is a | snp |
is | mentioned by |
dbSNP | rs569681869 |
dbSNP (classic) | rs569681869 |
ClinGen | rs569681869 |
ebi | rs569681869 |
HLI | rs569681869 |
Exac | rs569681869 |
Gnomad | rs569681869 |
Varsome | rs569681869 |
LitVar | rs569681869 |
Map | rs569681869 |
PheGenI | rs569681869 |
Biobank | rs569681869 |
1000 genomes | rs569681869 |
hgdp | rs569681869 |
ensembl | rs569681869 |
geneview | rs569681869 |
scholar | rs569681869 |
rs569681869 | |
pharmgkb | rs569681869 |
gwascentral | rs569681869 |
openSNP | rs569681869 |
23andMe | rs569681869 |
SNPshot | rs569681869 |
SNPdbe | rs569681869 |
MSV3d | rs569681869 |
GWAS Ctlg | rs569681869 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs569681869(G;G) |
Alt | rs569681869(G;G) |
Reference | Rs569681869(C;C) |
Significance | Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A4 |
CLNDBN | Alport syndrome, autosomal recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.227924184C>G |
CLNSRC | |
CLNACC | RCV000207535.1, |