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.