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rs202242769

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202242769(A;A)
Make rs202242769(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position32040723
GeneCYP21A2, TNXB
is asnp
is mentioned by
dbSNPrs202242769
dbSNP (old)rs202242769
ClinGenrs202242769
ebirs202242769
HLIrs202242769
Exacrs202242769
Gnomadrs202242769
Varsomers202242769
LitVarrs202242769
Maprs202242769
PheGenIrs202242769
Biobankrs202242769
1000 genomesrs202242769
hgdprs202242769
ensemblrs202242769
gopubmedrs202242769
geneviewrs202242769
scholarrs202242769
googlers202242769
pharmgkbrs202242769
gwascentralrs202242769
openSNPrs202242769
23andMers202242769
23andMe allrs202242769
SNPshotrs202242769
SNPdbers202242769
MSV3drs202242769
GWAS Ctlgrs202242769
Max Magnitude0
ClinVar
Risk rs202242769(A;A)
Alt rs202242769(A;A)
Reference Rs202242769(G;G)
Significance Probable-Pathogenic
Disease 21-hydroxylase deficiency
Variation info
Gene TNXB CYP21A2
CLNDBN 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32008500G>A
CLNSRC
CLNACC RCV000490344.1,