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rs193922540

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922540(A;A)
Make rs193922540(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position142877205
GeneCYP11B1
is asnp
is mentioned by
dbSNPrs193922540
ebirs193922540
HLIrs193922540
Exacrs193922540
Varsomers193922540
Maprs193922540
PheGenIrs193922540
hapmaprs193922540
1000 genomesrs193922540
hgdprs193922540
ensemblrs193922540
gopubmedrs193922540
geneviewrs193922540
scholarrs193922540
googlers193922540
pharmgkbrs193922540
gwascentralrs193922540
openSNPrs193922540
23andMers193922540
23andMe allrs193922540
SNP Nexus

SNPshotrs193922540
SNPdbers193922540
MSV3drs193922540
GWAS Ctlgrs193922540
Max Magnitude0
ClinVar
Risk rs193922540(A;A)
Alt rs193922540(A;A)
Reference rs193922540(G;G)
Significance Probable-Pathogenic
Disease Congenital adrenal hyperplasia
Variation info
Gene CYP11B1
CLNDBN Congenital adrenal hyperplasia
Reversed 1
HGVS NC_000008.10:g.143958621C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029647.1,