rs374815903
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs374815903(C;T) |
Make rs374815903(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 227118688 |
Gene | COL4A4 |
is a | snp |
is | mentioned by |
dbSNP | rs374815903 |
dbSNP (classic) | rs374815903 |
ClinGen | rs374815903 |
ebi | rs374815903 |
HLI | rs374815903 |
Exac | rs374815903 |
Gnomad | rs374815903 |
Varsome | rs374815903 |
LitVar | rs374815903 |
Map | rs374815903 |
PheGenI | rs374815903 |
Biobank | rs374815903 |
1000 genomes | rs374815903 |
hgdp | rs374815903 |
ensembl | rs374815903 |
geneview | rs374815903 |
scholar | rs374815903 |
rs374815903 | |
pharmgkb | rs374815903 |
gwascentral | rs374815903 |
openSNP | rs374815903 |
23andMe | rs374815903 |
SNPshot | rs374815903 |
SNPdbe | rs374815903 |
MSV3d | rs374815903 |
GWAS Ctlg | rs374815903 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs374815903(A;A) rs374815903(T;T) |
Alt | rs374815903(A;A) rs374815903(T;T) |
Reference | Rs374815903(C;C) |
Significance | Probable-Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A4 |
CLNDBN | Alport syndrome, autosomal recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.227983404C>A |
CLNSRC | |
CLNACC | RCV000408863.1, |