rs10178458
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 0 | |
(T;T) | 0 | common in clinvar |
Make rs10178458(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 227246719 |
Gene | COL4A3, LOC654841 |
is a | snp |
is | mentioned by |
dbSNP | rs10178458 |
dbSNP (classic) | rs10178458 |
ClinGen | rs10178458 |
ebi | rs10178458 |
HLI | rs10178458 |
Exac | rs10178458 |
Gnomad | rs10178458 |
Varsome | rs10178458 |
LitVar | rs10178458 |
Map | rs10178458 |
PheGenI | rs10178458 |
Biobank | rs10178458 |
1000 genomes | rs10178458 |
hgdp | rs10178458 |
ensembl | rs10178458 |
geneview | rs10178458 |
scholar | rs10178458 |
rs10178458 | |
pharmgkb | rs10178458 |
gwascentral | rs10178458 |
openSNP | rs10178458 |
23andMe | rs10178458 |
SNPshot | rs10178458 |
SNPdbe | rs10178458 |
MSV3d | rs10178458 |
GWAS Ctlg | rs10178458 |
GMAF | 0.191 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 20029656] Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.
ClinVar | |
---|---|
Risk | rs10178458(C;C) |
Alt | rs10178458(C;C) |
Reference | Rs10178458(T;T) |
Significance | Non-pathogenic |
Disease | not specified Alport syndrome |
Variation | info |
Gene | COL4A3 LOC654841 |
CLNDBN | not specified Alport syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.228111435T>C |
CLNSRC | |
CLNACC | RCV000245465.1, RCV000399711.1, |