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rs397515394

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
({{{allele1}}};{{{allele2}}}) 0 common in clinvar
Make rs397515394(-;-)
Make rs397515394(-;CTG)
Make rs397515394(CTG;CTG)
ReferenceGRCh38 38.1/142
Chromosome6
Position32038452
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs397515394
ebirs397515394
HLIrs397515394
Exacrs397515394
Varsomers397515394
Maprs397515394
PheGenIrs397515394
hapmaprs397515394
1000 genomesrs397515394
hgdprs397515394
ensemblrs397515394
gopubmedrs397515394
geneviewrs397515394
scholarrs397515394
googlers397515394
pharmgkbrs397515394
gwascentralrs397515394
openSNPrs397515394
23andMers397515394
23andMe allrs397515394
SNP Nexus

SNPshotrs397515394
SNPdbers397515394
MSV3drs397515394
GWAS Ctlgrs397515394
Max Magnitude0

[PMID 25249698] CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles

ClinVar
Risk rs397515394(CTG;CTG)
Alt rs397515394(CTG;CTG)
Reference rs397515394(;)
Significance Non-pathogenic
Disease 21-HYDROXYLASE POLYMORPHISM 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN 21-HYDROXYLASE POLYMORPHISM 21-hydroxylase deficiency
Reversed 0
HGVS NC_000006.11:g.32006227_32006229dupCTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000024070.2, RCV000055814.1,