Have questions? Visit https://www.reddit.com/r/SNPedia

rs267606757

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3 Carrier of allele for congenital adrenal hyperplasia
(C;C) 5 Congenital adrenal hyperplasia
ReferenceGRCh38 38.1/141
Chromosome6
Position32039162
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs267606757
dbSNP (classic)rs267606757
ClinGenrs267606757
ebirs267606757
HLIrs267606757
Exacrs267606757
Gnomadrs267606757
Varsomers267606757
LitVarrs267606757
Maprs267606757
PheGenIrs267606757
Biobankrs267606757
1000 genomesrs267606757
hgdprs267606757
ensemblrs267606757
geneviewrs267606757
scholarrs267606757
googlers267606757
pharmgkbrs267606757
gwascentralrs267606757
openSNPrs267606757
23andMers267606757
SNPshotrs267606757
SNPdbers267606757
MSV3drs267606757
GWAS Ctlgrs267606757
Max Magnitude5
ClinVar
Risk Rs267606757(C;C)
Alt Rs267606757(C;C)
Reference Rs267606757(A;A)
Significance Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32006939A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012966.4,