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rs121908924

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908924(C;T)
Make rs121908924(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15458197
GeneCOLQ
is asnp
is mentioned by
dbSNPrs121908924
ebirs121908924
HLIrs121908924
Exacrs121908924
Varsomers121908924
Maprs121908924
PheGenIrs121908924
hapmaprs121908924
1000 genomesrs121908924
hgdprs121908924
ensemblrs121908924
gopubmedrs121908924
geneviewrs121908924
scholarrs121908924
googlers121908924
pharmgkbrs121908924
gwascentralrs121908924
openSNPrs121908924
23andMers121908924
23andMe allrs121908924
SNP Nexus

SNPshotrs121908924
SNPdbers121908924
MSV3drs121908924
GWAS Ctlgrs121908924
Max Magnitude0
OMIM603033
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908924(T;T)
Alt rs121908924(T;T)
Reference rs121908924(C;C)
Significance Pathogenic
Disease Endplate acetylcholinesterase deficiency
Variation info
Gene COLQ
CLNDBN Endplate acetylcholinesterase deficiency
Reversed 1
HGVS NC_000003.11:g.15499704G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007034.3,