rs7755898
From SNPedia
| Q318X allele of the 21-hydroxylase gene. T is the risk allele. This represents a null allele (no function). |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | miscalled by 23andMe, but should indicate being a carrier of allele for congenital adrenal hyperplasia |
| (T;T) | 5 | Congenital adrenal hyperplasia |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 32040421 |
| Gene | CYP21A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7755898 |
| dbSNP (classic) | rs7755898 |
| ClinGen | rs7755898 |
| ebi | rs7755898 |
| HLI | rs7755898 |
| Exac | rs7755898 |
| Gnomad | rs7755898 |
| Varsome | rs7755898 |
| LitVar | rs7755898 |
| Map | rs7755898 |
| PheGenI | rs7755898 |
| Biobank | rs7755898 |
| 1000 genomes | rs7755898 |
| hgdp | rs7755898 |
| ensembl | rs7755898 |
| geneview | rs7755898 |
| scholar | rs7755898 |
| rs7755898 | |
| pharmgkb | rs7755898 |
| gwascentral | rs7755898 |
| openSNP | rs7755898 |
| 23andMe | rs7755898 |
| SNPshot | rs7755898 |
| SNPdbe | rs7755898 |
| MSV3d | rs7755898 |
| GWAS Ctlg | rs7755898 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | Rs7755898(T;T) |
| Alt | Rs7755898(T;T) |
| Reference | Rs7755898(C;C) |
| Significance | Pathogenic |
| Disease | 21-hydroxylase deficiency |
| Variation | info |
| Gene | CYP21A2 |
| CLNDBN | 21-hydroxylase deficiency |
| Reversed | 0 |
| HGVS | NC_000006.11:g.32008198C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012951.3, RCV000417198.1, |
This SNP is supposed to serve as a marker for the Q318X null allele of the 21-hydroxylase gene. This would generally be associated, when homozygous, with the most severe form of congenital adrenal hyperplasia (salt wasting). However, a random survey of 10 publicly uploaded genomes showed all 10 to be carriers. This is well out of Hardy-Weinberg equilibrium, making the accuracy of this SNP as reported by 23andme suspect. Positive results should be clinically correlated and verified in cooperation with your health care provider.
