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rs121908922

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908922(A;T)
Make rs121908922(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15458296
GeneCOLQ
is asnp
is mentioned by
dbSNPrs121908922
ebirs121908922
HLIrs121908922
Exacrs121908922
Varsomers121908922
Maprs121908922
PheGenIrs121908922
hapmaprs121908922
1000 genomesrs121908922
hgdprs121908922
ensemblrs121908922
gopubmedrs121908922
geneviewrs121908922
scholarrs121908922
googlers121908922
pharmgkbrs121908922
gwascentralrs121908922
openSNPrs121908922
23andMers121908922
23andMe allrs121908922
SNP Nexus

SNPshotrs121908922
SNPdbers121908922
MSV3drs121908922
GWAS Ctlgrs121908922
Max Magnitude0
OMIM603033
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908922(T;T)
Alt rs121908922(T;T)
Reference rs121908922(A;A)
Significance Pathogenic
Disease Endplate acetylcholinesterase deficiency
Variation info
Gene COLQ
CLNDBN Endplate acetylcholinesterase deficiency
Reversed 1
HGVS NC_000003.11:g.15499803T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007030.3,