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rs387906326

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387906326(-;-)
Make rs387906326(-;T)
Make rs387906326(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position53308975
GeneAAAS
is asnp
is mentioned by
dbSNPrs387906326
ebirs387906326
HLIrs387906326
Exacrs387906326
Varsomers387906326
Maprs387906326
PheGenIrs387906326
hapmaprs387906326
1000 genomesrs387906326
hgdprs387906326
ensemblrs387906326
gopubmedrs387906326
geneviewrs387906326
scholarrs387906326
googlers387906326
pharmgkbrs387906326
gwascentralrs387906326
openSNPrs387906326
23andMers387906326
23andMe allrs387906326
SNP Nexus

SNPshotrs387906326
SNPdbers387906326
MSV3drs387906326
GWAS Ctlgrs387906326
Max Magnitude0
ClinVar
Risk rs387906326(T;T)
Alt rs387906326(T;T)
Reference rs387906326(;)
Significance Pathogenic
Disease Glucocorticoid deficiency with achalasia
Variation info
Gene AAAS
CLNDBN Glucocorticoid deficiency with achalasia
Reversed 1
HGVS NC_000012.11:g.53702760dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005344.3,