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rs7769409

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 miscallled 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
Position32040535
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs7769409
dbSNP (classic)rs7769409
ClinGenrs7769409
ebirs7769409
HLIrs7769409
Exacrs7769409
Gnomadrs7769409
Varsomers7769409
LitVarrs7769409
Maprs7769409
PheGenIrs7769409
Biobankrs7769409
1000 genomesrs7769409
hgdprs7769409
ensemblrs7769409
geneviewrs7769409
scholarrs7769409
googlers7769409
pharmgkbrs7769409
gwascentralrs7769409
openSNPrs7769409
23andMers7769409
SNPshotrs7769409
SNPdbers7769409
MSV3drs7769409
GWAS Ctlgrs7769409
Max Magnitude5
OMIM201910
Desc
Variant0003
Relatedalso
ClinVar
Risk Rs7769409(T;T)
Alt Rs7769409(T;T)
Reference Rs7769409(C;C)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32008312C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012937.3, RCV000417198.1,