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rs773601814

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs773601814(A;G)
Make rs773601814(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position53309018
GeneAAAS
is asnp
is mentioned by
dbSNPrs773601814
dbSNP (classic)rs773601814
ClinGenrs773601814
ebirs773601814
HLIrs773601814
Exacrs773601814
Gnomadrs773601814
Varsomers773601814
LitVarrs773601814
Maprs773601814
PheGenIrs773601814
Biobankrs773601814
1000 genomesrs773601814
hgdprs773601814
ensemblrs773601814
geneviewrs773601814
scholarrs773601814
googlers773601814
pharmgkbrs773601814
gwascentralrs773601814
openSNPrs773601814
23andMers773601814
SNPshotrs773601814
SNPdbers773601814
MSV3drs773601814
GWAS Ctlgrs773601814
Max Magnitude0
ClinVar
Risk rs773601814(G;G)
Alt rs773601814(G;G)
Reference Rs773601814(A;A)
Significance Pathogenic
Disease Glucocorticoid deficiency with achalasia
Variation info
Gene AAAS
CLNDBN Glucocorticoid deficiency with achalasia
Reversed 0
HGVS NC_000012.11:g.53702802A>G
CLNSRC
CLNACC RCV000184015.2,