rs869025329
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs869025329(A;C) |
Make rs869025329(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 227098800 |
Gene | COL4A4 |
is a | snp |
is | mentioned by |
dbSNP | rs869025329 |
dbSNP (classic) | rs869025329 |
ClinGen | rs869025329 |
ebi | rs869025329 |
HLI | rs869025329 |
Exac | rs869025329 |
Gnomad | rs869025329 |
Varsome | rs869025329 |
LitVar | rs869025329 |
Map | rs869025329 |
PheGenI | rs869025329 |
Biobank | rs869025329 |
1000 genomes | rs869025329 |
hgdp | rs869025329 |
ensembl | rs869025329 |
geneview | rs869025329 |
scholar | rs869025329 |
rs869025329 | |
pharmgkb | rs869025329 |
gwascentral | rs869025329 |
openSNP | rs869025329 |
23andMe | rs869025329 |
SNPshot | rs869025329 |
SNPdbe | rs869025329 |
MSV3d | rs869025329 |
GWAS Ctlg | rs869025329 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025329(C;C) |
Alt | rs869025329(C;C) |
Reference | Rs869025329(A;A) |
Significance | Pathogenic |
Disease | Benign familial hematuria |
Variation | info |
Gene | COL4A4 |
CLNDBN | Benign familial hematuria |
Reversed | 1 |
HGVS | NC_000002.11:g.227963516T>G |
CLNSRC | |
CLNACC | RCV000207864.1, |