rs869025328
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869025328(G;T) |
Make rs869025328(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 227253638 |
Gene | COL4A3, LOC654841 |
is a | snp |
is | mentioned by |
dbSNP | rs869025328 |
dbSNP (classic) | rs869025328 |
ClinGen | rs869025328 |
ebi | rs869025328 |
HLI | rs869025328 |
Exac | rs869025328 |
Gnomad | rs869025328 |
Varsome | rs869025328 |
LitVar | rs869025328 |
Map | rs869025328 |
PheGenI | rs869025328 |
Biobank | rs869025328 |
1000 genomes | rs869025328 |
hgdp | rs869025328 |
ensembl | rs869025328 |
geneview | rs869025328 |
scholar | rs869025328 |
rs869025328 | |
pharmgkb | rs869025328 |
gwascentral | rs869025328 |
openSNP | rs869025328 |
23andMe | rs869025328 |
SNPshot | rs869025328 |
SNPdbe | rs869025328 |
MSV3d | rs869025328 |
GWAS Ctlg | rs869025328 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025328(A;A) rs869025328(T;T) |
Alt | rs869025328(A;A) rs869025328(T;T) |
Reference | Rs869025328(G;G) |
Significance | Pathogenic |
Disease | Alport syndrome Benign familial hematuria |
Variation | info |
Gene | COL4A3 LOC654841 |
CLNDBN | Alport syndrome, autosomal recessive Benign familial hematuria |
Reversed | 0 |
HGVS | NC_000002.11:g.228118354G>A; NC_000002.11:g.228118354G>T |
CLNSRC | |
CLNACC | RCV000256383.1, RCV000207854.1, |