rs869025324
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs869025324(A;A) |
Make rs869025324(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 227253337 |
Gene | COL4A3, LOC654841 |
is a | snp |
is | mentioned by |
dbSNP | rs869025324 |
dbSNP (classic) | rs869025324 |
ClinGen | rs869025324 |
ebi | rs869025324 |
HLI | rs869025324 |
Exac | rs869025324 |
Gnomad | rs869025324 |
Varsome | rs869025324 |
LitVar | rs869025324 |
Map | rs869025324 |
PheGenI | rs869025324 |
Biobank | rs869025324 |
1000 genomes | rs869025324 |
hgdp | rs869025324 |
ensembl | rs869025324 |
geneview | rs869025324 |
scholar | rs869025324 |
rs869025324 | |
pharmgkb | rs869025324 |
gwascentral | rs869025324 |
openSNP | rs869025324 |
23andMe | rs869025324 |
SNPshot | rs869025324 |
SNPdbe | rs869025324 |
MSV3d | rs869025324 |
GWAS Ctlg | rs869025324 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025324(A;A) |
Alt | rs869025324(A;A) |
Reference | Rs869025324(G;G) |
Significance | Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A3 LOC654841 |
CLNDBN | Alport syndrome, autosomal recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.228118053G>A |
CLNSRC | |
CLNACC | RCV000207840.1, |