rs72549405
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs72549405(A;A) |
| Make rs72549405(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 22991060 |
| Gene | FAM126A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72549405 |
| dbSNP (classic) | rs72549405 |
| ClinGen | rs72549405 |
| ebi | rs72549405 |
| HLI | rs72549405 |
| Exac | rs72549405 |
| Gnomad | rs72549405 |
| Varsome | rs72549405 |
| LitVar | rs72549405 |
| Map | rs72549405 |
| PheGenI | rs72549405 |
| Biobank | rs72549405 |
| 1000 genomes | rs72549405 |
| hgdp | rs72549405 |
| ensembl | rs72549405 |
| geneview | rs72549405 |
| scholar | rs72549405 |
| rs72549405 | |
| pharmgkb | rs72549405 |
| gwascentral | rs72549405 |
| openSNP | rs72549405 |
| 23andMe | rs72549405 |
| SNPshot | rs72549405 |
| SNPdbe | rs72549405 |
| MSV3d | rs72549405 |
| GWAS Ctlg | rs72549405 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72549405(A;A) |
| Alt | rs72549405(A;A) |
| Reference | Rs72549405(G;G) |
| Significance | Pathogenic |
| Disease | Hypomyelination and Congenital Cataract |
| Variation | info |
| Gene | FAM126A |
| CLNDBN | Hypomyelination and Congenital Cataract |
| Reversed | 1 |
| HGVS | NC_000007.13:g.23030679C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001273.4, |
[PMID 16951682] Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
