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rs121908923

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908923(A;C)
Make rs121908923(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position15453838
GeneCOLQ
is asnp
is mentioned by
dbSNPrs121908923
ebirs121908923
HLIrs121908923
Exacrs121908923
Varsomers121908923
Maprs121908923
PheGenIrs121908923
hapmaprs121908923
1000 genomesrs121908923
hgdprs121908923
ensemblrs121908923
gopubmedrs121908923
geneviewrs121908923
scholarrs121908923
googlers121908923
pharmgkbrs121908923
gwascentralrs121908923
openSNPrs121908923
23andMers121908923
23andMe allrs121908923
SNP Nexus

SNPshotrs121908923
SNPdbers121908923
MSV3drs121908923
GWAS Ctlgrs121908923
Max Magnitude0
OMIM603033
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908923(C;C)
Alt rs121908923(C;C)
Reference rs121908923(A;A)
Significance Pathogenic
Disease Endplate acetylcholinesterase deficiency
Variation info
Gene COLQ
CLNDBN Endplate acetylcholinesterase deficiency
Reversed 1
HGVS NC_000003.11:g.15495345T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007033.3,