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rs121918547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918547(C;T)
Make rs121918547(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position53309158
GeneAAAS
is asnp
is mentioned by
dbSNPrs121918547
ebirs121918547
HLIrs121918547
Exacrs121918547
Varsomers121918547
Maprs121918547
PheGenIrs121918547
hapmaprs121918547
1000 genomesrs121918547
hgdprs121918547
ensemblrs121918547
gopubmedrs121918547
geneviewrs121918547
scholarrs121918547
googlers121918547
pharmgkbrs121918547
gwascentralrs121918547
openSNPrs121918547
23andMers121918547
23andMe allrs121918547
SNP Nexus

SNPshotrs121918547
SNPdbers121918547
MSV3drs121918547
GWAS Ctlgrs121918547
GMAF0.001377
Max Magnitude0
OMIM605378
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918547(G,T;G,T)
Alt rs121918547(G,T;G,T)
Reference rs121918547(C;C)
Significance Pathogenic
Disease Glucocorticoid deficiency with achalasia
Variation info
Gene AAAS
CLNDBN Glucocorticoid deficiency with achalasia
Reversed 1
HGVS NC_000012.11:g.53702942G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005342.3,