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rs6475

From SNPedia

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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 complete genomics
ReferenceGRCh38 38.1/141
Chromosome6
Position32039426
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs6475
ebirs6475
HLIrs6475
Exacrs6475
Varsomers6475
Maprs6475
PheGenIrs6475
hapmaprs6475
1000 genomesrs6475
hgdprs6475
ensemblrs6475
gopubmedrs6475
geneviewrs6475
scholarrs6475
googlers6475
pharmgkbrs6475
gwascentralrs6475
openSNPrs6475
23andMers6475
23andMe allrs6475
SNP Nexus

SNPshotrs6475
SNPdbers6475
MSV3drs6475
GWAS Ctlgrs6475
Max Magnitude5
OMIM201910
Desc
Variant0001
Relatedalso
ClinVar
Risk rs6475(A;A)
Alt rs6475(A;A)
Reference rs6475(T;T)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32007203T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012933.2,