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rs387906510

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 5 Congenital adrenal hyperplasia
(-;GAGACTAC) 3 Carrier of allele for congenital adrenal hyperplasia
(GAGACTAC;GAGACTAC) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome6
Position32039133
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs387906510
ebirs387906510
HLIrs387906510
Exacrs387906510
Varsomers387906510
Maprs387906510
PheGenIrs387906510
hapmaprs387906510
1000 genomesrs387906510
hgdprs387906510
ensemblrs387906510
gopubmedrs387906510
geneviewrs387906510
scholarrs387906510
googlers387906510
pharmgkbrs387906510
gwascentralrs387906510
openSNPrs387906510
23andMers387906510
23andMe allrs387906510
SNP Nexus

SNPshotrs387906510
SNPdbers387906510
MSV3drs387906510
GWAS Ctlgrs387906510
Max Magnitude5
ClinVar
Risk rs387906510(;)
Alt rs387906510(;)
Reference rs387906510(GAGACTAC;GAGACTAC)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32006910_32006917delGAGACTAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012946.2,