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rs6476

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Congenital adrenal hyperplasia
(A;T) 3 Carrier of allele for congenital adrenal hyperplasia
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome6
Position32039816
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs6476
ebirs6476
HLIrs6476
Exacrs6476
Varsomers6476
Maprs6476
PheGenIrs6476
hapmaprs6476
1000 genomesrs6476
hgdprs6476
ensemblrs6476
gopubmedrs6476
geneviewrs6476
scholarrs6476
googlers6476
pharmgkbrs6476
gwascentralrs6476
openSNPrs6476
23andMers6476
23andMe allrs6476
SNP Nexus

SNPshotrs6476
SNPdbers6476
MSV3drs6476
GWAS Ctlgrs6476
GMAF0.005969
Max Magnitude5
? (A;A) (A;T) (T;T) 28
ClinVar
Risk rs6476(A;A)
Alt rs6476(A;A)
Reference rs6476(T;T)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32007593T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012947.2, RCV000055823.1,