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rs104893733

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893733(G;T)
Make rs104893733(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15470613
GeneCOLQ
is asnp
is mentioned by
dbSNPrs104893733
ebirs104893733
HLIrs104893733
Exacrs104893733
Varsomers104893733
Maprs104893733
PheGenIrs104893733
hapmaprs104893733
1000 genomesrs104893733
hgdprs104893733
ensemblrs104893733
gopubmedrs104893733
geneviewrs104893733
scholarrs104893733
googlers104893733
pharmgkbrs104893733
gwascentralrs104893733
openSNPrs104893733
23andMers104893733
23andMe allrs104893733
SNP Nexus

SNPshotrs104893733
SNPdbers104893733
MSV3drs104893733
GWAS Ctlgrs104893733
Max Magnitude0
OMIM603033
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893733(T;T)
Alt rs104893733(T;T)
Reference rs104893733(G;G)
Significance Pathogenic
Disease Endplate acetylcholinesterase deficiency
Variation info
Gene COLQ
CLNDBN Endplate acetylcholinesterase deficiency
Reversed 1
HGVS NC_000003.11:g.15512120C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007028.3,