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rs6472

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 benign polymorphism
(C;G) 0 benign polymorphism
(G;G) 0 common/normal
ReferenceGRCh38 38.1/141
Chromosome6
Position32040072
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs6472
ebirs6472
HLIrs6472
Exacrs6472
Varsomers6472
Maprs6472
PheGenIrs6472
hapmaprs6472
1000 genomesrs6472
hgdprs6472
ensemblrs6472
gopubmedrs6472
geneviewrs6472
scholarrs6472
googlers6472
pharmgkbrs6472
gwascentralrs6472
openSNPrs6472
23andMers6472
23andMe allrs6472
SNP Nexus

SNPshotrs6472
SNPdbers6472
MSV3drs6472
GWAS Ctlgrs6472
Max Magnitude0
? (C;C) (C;G) (G;G) 28

[PMID 25249698] CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles


ClinVar
Risk rs6472(C;C)
Alt rs6472(C;C)
Reference rs6472(G;G)
Significance Non-pathogenic
Disease 21-HYDROXYLASE POLYMORPHISM Congenital adrenal hyperplasia 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN 21-HYDROXYLASE POLYMORPHISM Congenital adrenal hyperplasia 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32007849G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024069.2, RCV000029655.2, RCV000055819.1,