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rs7755898

From SNPedia

Q318X allele of the 21-hydroxylase gene. T is the risk allele. This represents a null allele (no function).
Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome6
Position32040421
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs7755898
ebirs7755898
HLIrs7755898
Exacrs7755898
Varsomers7755898
Maprs7755898
PheGenIrs7755898
hapmaprs7755898
1000 genomesrs7755898
hgdprs7755898
ensemblrs7755898
gopubmedrs7755898
geneviewrs7755898
scholarrs7755898
googlers7755898
pharmgkbrs7755898
gwascentralrs7755898
openSNPrs7755898
23andMers7755898
23andMe allrs7755898
SNP Nexus

SNPshotrs7755898
SNPdbers7755898
MSV3drs7755898
GWAS Ctlgrs7755898
Max Magnitude5
OMIM201910
Desc
Variant0020
Relatedalso
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 RCV000012951.2,



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.