rs6436669
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 0 |
Make rs6436669(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 227248459 |
Gene | COL4A3, LOC654841 |
is a | snp |
is | mentioned by |
dbSNP | rs6436669 |
dbSNP (classic) | rs6436669 |
ClinGen | rs6436669 |
ebi | rs6436669 |
HLI | rs6436669 |
Exac | rs6436669 |
Gnomad | rs6436669 |
Varsome | rs6436669 |
LitVar | rs6436669 |
Map | rs6436669 |
PheGenI | rs6436669 |
Biobank | rs6436669 |
1000 genomes | rs6436669 |
hgdp | rs6436669 |
ensembl | rs6436669 |
geneview | rs6436669 |
scholar | rs6436669 |
rs6436669 | |
pharmgkb | rs6436669 |
gwascentral | rs6436669 |
openSNP | rs6436669 |
23andMe | rs6436669 |
SNPshot | rs6436669 |
SNPdbe | rs6436669 |
MSV3d | rs6436669 |
GWAS Ctlg | rs6436669 |
GMAF | 0.191 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 20029656] Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.
ClinVar | |
---|---|
Risk | rs6436669(G;G) |
Alt | rs6436669(G;G) |
Reference | Rs6436669(A;A) |
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.228113175A>G |
CLNSRC | |
CLNACC | RCV000242416.1, RCV000295878.1, |
Categories:
- Is a snp
- In dbSNP
- SNPs on chromosome 2
- Has genotype
- Has population
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip Affy GenomeWide 6
- On chip Affy500k
- On chip Ancestry v2
- On chip FTDNA2
- On chip FTDNA
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip Ancestry v2c
- On chip Ancestry v2d