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rs121918549

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918549(A;A)
Make rs121918549(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position53321423
GeneAAAS
is asnp
is mentioned by
dbSNPrs121918549
ebirs121918549
HLIrs121918549
Exacrs121918549
Varsomers121918549
Maprs121918549
PheGenIrs121918549
hapmaprs121918549
1000 genomesrs121918549
hgdprs121918549
ensemblrs121918549
gopubmedrs121918549
geneviewrs121918549
scholarrs121918549
googlers121918549
pharmgkbrs121918549
gwascentralrs121918549
openSNPrs121918549
23andMers121918549
23andMe allrs121918549
SNP Nexus

SNPshotrs121918549
SNPdbers121918549
MSV3drs121918549
GWAS Ctlgrs121918549
Max Magnitude0
OMIM605378
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918549(A;A)
Alt rs121918549(A;A)
Reference rs121918549(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.53715207G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005347.3,