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rs121918548

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918548(C;T)
Make rs121918548(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position53307698
GeneAAAS
is asnp
is mentioned by
dbSNPrs121918548
ebirs121918548
HLIrs121918548
Exacrs121918548
Varsomers121918548
Maprs121918548
PheGenIrs121918548
hapmaprs121918548
1000 genomesrs121918548
hgdprs121918548
ensemblrs121918548
gopubmedrs121918548
geneviewrs121918548
scholarrs121918548
googlers121918548
pharmgkbrs121918548
gwascentralrs121918548
openSNPrs121918548
23andMers121918548
23andMe allrs121918548
SNP Nexus

SNPshotrs121918548
SNPdbers121918548
MSV3drs121918548
GWAS Ctlgrs121918548
Max Magnitude0
OMIM605378
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918548(T;T)
Alt rs121918548(T;T)
Reference rs121918548(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.53701482G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005343.3,