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rs104894070

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894070(C;T)
Make rs104894070(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position142879146
GeneCYP11B1
is asnp
is mentioned by
dbSNPrs104894070
ebirs104894070
HLIrs104894070
Exacrs104894070
Varsomers104894070
Maprs104894070
PheGenIrs104894070
hapmaprs104894070
1000 genomesrs104894070
hgdprs104894070
ensemblrs104894070
gopubmedrs104894070
geneviewrs104894070
scholarrs104894070
googlers104894070
pharmgkbrs104894070
gwascentralrs104894070
openSNPrs104894070
23andMers104894070
23andMe allrs104894070
SNP Nexus

SNPshotrs104894070
SNPdbers104894070
MSV3drs104894070
GWAS Ctlgrs104894070
Max Magnitude0
OMIM610613
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104894070(T;T)
Alt rs104894070(T;T)
Reference rs104894070(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.143960562G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001245.2, RCV000029646.2,


[PMID 16046588] 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.


[PMID 16670167] Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency.


[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.


[PMID 20089618OA-icon.png] Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.