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rs12530380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs12530380(A;A)
Make rs12530380(A;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position32039810
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs12530380
ebirs12530380
HLIrs12530380
Exacrs12530380
Varsomers12530380
Maprs12530380
PheGenIrs12530380
hapmaprs12530380
1000 genomesrs12530380
hgdprs12530380
ensemblrs12530380
gopubmedrs12530380
geneviewrs12530380
scholarrs12530380
googlers12530380
pharmgkbrs12530380
gwascentralrs12530380
openSNPrs12530380
23andMers12530380
23andMe allrs12530380
SNP Nexus

SNPshotrs12530380
SNPdbers12530380
MSV3drs12530380
GWAS Ctlgrs12530380
Max Magnitude0
? (A;A) (A;T) (T;T) 28
ClinVar
Risk rs12530380(A;A)
Alt rs12530380(A;A)
Reference rs12530380(T;T)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32007587T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012947.2, RCV000055823.1,



OMIM201910
Desc
Variant0017
Relatedalso