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rs193922541

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922541(C;C)
Make rs193922541(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position142876680
GeneCYP11B1
is asnp
is mentioned by
dbSNPrs193922541
dbSNP (classic)rs193922541
ClinGenrs193922541
ebirs193922541
HLIrs193922541
Exacrs193922541
Gnomadrs193922541
Varsomers193922541
LitVarrs193922541
Maprs193922541
PheGenIrs193922541
Biobankrs193922541
1000 genomesrs193922541
hgdprs193922541
ensemblrs193922541
geneviewrs193922541
scholarrs193922541
googlers193922541
pharmgkbrs193922541
gwascentralrs193922541
openSNPrs193922541
23andMers193922541
SNPshotrs193922541
SNPdbers193922541
MSV3drs193922541
GWAS Ctlgrs193922541
Max Magnitude0
ClinVar
Risk rs193922541(C;C)
Alt rs193922541(C;C)
Reference Rs193922541(T;T)
Significance Probable-Pathogenic
Disease Congenital adrenal hyperplasia
Variation info
Gene CYP11B1
CLNDBN Congenital adrenal hyperplasia
Reversed 1
HGVS NC_000008.10:g.143958096A>G
CLNSRC ClinVar
CLNACC RCV000029648.1,