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rs193922539

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922539(A;A)
Make rs193922539(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position142879163
GeneCYP11B1
is asnp
is mentioned by
dbSNPrs193922539
ebirs193922539
HLIrs193922539
Exacrs193922539
Varsomers193922539
Maprs193922539
PheGenIrs193922539
hapmaprs193922539
1000 genomesrs193922539
hgdprs193922539
ensemblrs193922539
gopubmedrs193922539
geneviewrs193922539
scholarrs193922539
googlers193922539
pharmgkbrs193922539
gwascentralrs193922539
openSNPrs193922539
23andMers193922539
23andMe allrs193922539
SNP Nexus

SNPshotrs193922539
SNPdbers193922539
MSV3drs193922539
GWAS Ctlgrs193922539
Max Magnitude0
ClinVar
Risk rs193922539(A;A)
Alt rs193922539(A;A)
Reference rs193922539(G;G)
Significance Probable-Pathogenic
Disease Congenital adrenal hyperplasia
Variation info
Gene CYP11B1
CLNDBN Congenital adrenal hyperplasia
Reversed 1
HGVS NC_000008.10:g.143960579C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029645.1,


[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.