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rs104894069

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894069(C;T)
Make rs104894069(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position142879690
GeneCYP11B1
is asnp
is mentioned by
dbSNPrs104894069
ebirs104894069
HLIrs104894069
Exacrs104894069
Varsomers104894069
Maprs104894069
PheGenIrs104894069
hapmaprs104894069
1000 genomesrs104894069
hgdprs104894069
ensemblrs104894069
gopubmedrs104894069
geneviewrs104894069
scholarrs104894069
googlers104894069
pharmgkbrs104894069
gwascentralrs104894069
openSNPrs104894069
23andMers104894069
23andMe allrs104894069
SNP Nexus

SNPshotrs104894069
SNPdbers104894069
MSV3drs104894069
GWAS Ctlgrs104894069
Max Magnitude0
OMIM610613
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894069(T;T)
Alt rs104894069(T;T)
Reference rs104894069(C;C)
Significance Pathogenic
Disease Deficiency of steroid 11-beta-monooxygenase Congenital adrenal hyperplasia
Variation info
Gene CYP11B1
CLNDBN Deficiency of steroid 11-beta-monooxygenase Congenital adrenal hyperplasia
Reversed 1
HGVS NC_000008.10:g.143961106G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001238.2, RCV000029642.2,


[PMID 124524] [The water supply of SPF animal houses. I. Methods for the hygienic improvement of drinking water. II. Suitability of various filtration systems for water sterilization].

[PMID 9302260] CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

[PMID 11154148] Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess.

[PMID 11344939] Steroid 11 beta-hydroxylase deficiency and related disorders.

[PMID 17172090] Donor splice mutation in the 11beta-hydroxylase (CypllB1) gene resulting in sex reversal: a case report and review of the literature.

[PMID 19204079] A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450.