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rs121918550

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918550(C;C)
Make rs121918550(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position53309624
GeneAAAS
is asnp
is mentioned by
dbSNPrs121918550
ebirs121918550
HLIrs121918550
Exacrs121918550
Varsomers121918550
Maprs121918550
PheGenIrs121918550
hapmaprs121918550
1000 genomesrs121918550
hgdprs121918550
ensemblrs121918550
gopubmedrs121918550
geneviewrs121918550
scholarrs121918550
googlers121918550
pharmgkbrs121918550
gwascentralrs121918550
openSNPrs121918550
23andMers121918550
23andMe allrs121918550
SNP Nexus

SNPshotrs121918550
SNPdbers121918550
MSV3drs121918550
GWAS Ctlgrs121918550
GMAF0.0009183
Max Magnitude0
OMIM605378
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918550(C;C)
Alt rs121918550(C;C)
Reference rs121918550(T;T)
Significance Pathogenic
Disease Glucocorticoid deficiency with achalasia
Variation info
Gene AAAS
CLNDBN Glucocorticoid deficiency with achalasia
Reversed 1
HGVS NC_000012.11:g.53703408A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005348.3,