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
