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rs121918551

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918551(C;T)
Make rs121918551(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position53308095
GeneAAAS
is asnp
is mentioned by
dbSNPrs121918551
ebirs121918551
HLIrs121918551
Exacrs121918551
Varsomers121918551
Maprs121918551
PheGenIrs121918551
hapmaprs121918551
1000 genomesrs121918551
hgdprs121918551
ensemblrs121918551
gopubmedrs121918551
geneviewrs121918551
scholarrs121918551
googlers121918551
pharmgkbrs121918551
gwascentralrs121918551
openSNPrs121918551
23andMers121918551
23andMe allrs121918551
SNP Nexus

SNPshotrs121918551
SNPdbers121918551
MSV3drs121918551
GWAS Ctlgrs121918551
Max Magnitude0
OMIM605378
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918551(T;T)
Alt rs121918551(T;T)
Reference rs121918551(C;C)
Significance Pathogenic
Disease Achalasia-alacrima syndrome
Variation info
Gene AAAS
CLNDBN Achalasia-alacrima syndrome
Reversed 1
HGVS NC_000012.11:g.53701879G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005350.2,