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rs9378251

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 3 Carrier of allele for congenital adrenal hyperplasia
(T;T) 5 Congenital adrenal hyperplasia
ReferenceGRCh38 38.1/141
Chromosome6
Position32038514
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs9378251
ebirs9378251
HLIrs9378251
Exacrs9378251
Varsomers9378251
Maprs9378251
PheGenIrs9378251
hapmaprs9378251
1000 genomesrs9378251
hgdprs9378251
ensemblrs9378251
gopubmedrs9378251
geneviewrs9378251
scholarrs9378251
googlers9378251
pharmgkbrs9378251
gwascentralrs9378251
openSNPrs9378251
23andMers9378251
23andMe allrs9378251
SNP Nexus

SNPshotrs9378251
SNPdbers9378251
MSV3drs9378251
GWAS Ctlgrs9378251
Max Magnitude5
OMIM201910
Desc
Variant0004
Relatedalso
ClinVar
Risk rs9378251(T;T)
Alt rs9378251(T;T)
Reference rs9378251(C;C)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32006291C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012938.3,