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rs151344503

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Congenital adrenal hyperplasia
(A;G) 3 Carrier of allele for congenital adrenal hyperplasia
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome6
Position32040766
GeneCYP21A2, TNXB
is asnp
is mentioned by
dbSNPrs151344503
ebirs151344503
HLIrs151344503
Exacrs151344503
Varsomers151344503
Maprs151344503
PheGenIrs151344503
hapmaprs151344503
1000 genomesrs151344503
hgdprs151344503
ensemblrs151344503
gopubmedrs151344503
geneviewrs151344503
scholarrs151344503
googlers151344503
pharmgkbrs151344503
gwascentralrs151344503
openSNPrs151344503
23andMers151344503
23andMe allrs151344503
SNP Nexus

SNPshotrs151344503
SNPdbers151344503
MSV3drs151344503
GWAS Ctlgrs151344503
Max Magnitude5
ClinVar
Risk rs151344503(A;A)
Alt rs151344503(A;A)
Reference rs151344503(G;G)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene TNXB CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32008543G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012953.2,