rs11677877
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common on affy axiom data |
Make rs11677877(A;G) |
Make rs11677877(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 227266453 |
Gene | COL4A3, LOC654841 |
is a | snp |
is | mentioned by |
dbSNP | rs11677877 |
dbSNP (classic) | rs11677877 |
ClinGen | rs11677877 |
ebi | rs11677877 |
HLI | rs11677877 |
Exac | rs11677877 |
Gnomad | rs11677877 |
Varsome | rs11677877 |
LitVar | rs11677877 |
Map | rs11677877 |
PheGenI | rs11677877 |
Biobank | rs11677877 |
1000 genomes | rs11677877 |
hgdp | rs11677877 |
ensembl | rs11677877 |
geneview | rs11677877 |
scholar | rs11677877 |
rs11677877 | |
pharmgkb | rs11677877 |
gwascentral | rs11677877 |
openSNP | rs11677877 |
23andMe | rs11677877 |
SNPshot | rs11677877 |
SNPdbe | rs11677877 |
MSV3d | rs11677877 |
GWAS Ctlg | rs11677877 |
GMAF | 0.1015 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 20029656] Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.
ClinVar | |
---|---|
Risk | rs11677877(G;G) |
Alt | rs11677877(G;G) |
Reference | Rs11677877(A;A) |
Significance | Probable-non-pathogenic |
Disease | not specified Alport syndrome |
Variation | info |
Gene | COL4A3 LOC654841 |
CLNDBN | not specified Alport syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.228131169A>G |
CLNSRC | |
CLNACC | RCV000244910.1, RCV000357978.1, |