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rs72552758

From SNPedia

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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
Position32040919
GeneCYP21A2, TNXB
is asnp
is mentioned by
dbSNPrs72552758
ebirs72552758
HLIrs72552758
Exacrs72552758
Varsomers72552758
Maprs72552758
PheGenIrs72552758
hapmaprs72552758
1000 genomesrs72552758
hgdprs72552758
ensemblrs72552758
gopubmedrs72552758
geneviewrs72552758
scholarrs72552758
googlers72552758
pharmgkbrs72552758
gwascentralrs72552758
openSNPrs72552758
23andMers72552758
23andMe allrs72552758
SNP Nexus

SNPshotrs72552758
SNPdbers72552758
MSV3drs72552758
GWAS Ctlgrs72552758
Max Magnitude5
OMIM201910
Desc
Variant0025
Relatedalso
ClinVar
Risk rs72552758(A;A)
Alt rs72552758(A;A)
Reference rs72552758(G;G)
Significance Probable-Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene TNXB CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32008696G>A
CLNSRC
CLNACC