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rs104893734

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893734(C;G)
Make rs104893734(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15475447
GeneCOLQ
is asnp
is mentioned by
dbSNPrs104893734
ebirs104893734
HLIrs104893734
Exacrs104893734
Varsomers104893734
Maprs104893734
PheGenIrs104893734
hapmaprs104893734
1000 genomesrs104893734
hgdprs104893734
ensemblrs104893734
gopubmedrs104893734
geneviewrs104893734
scholarrs104893734
googlers104893734
pharmgkbrs104893734
gwascentralrs104893734
openSNPrs104893734
23andMers104893734
23andMe allrs104893734
SNP Nexus

SNPshotrs104893734
SNPdbers104893734
MSV3drs104893734
GWAS Ctlgrs104893734
Max Magnitude0
OMIM603033
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893734(G;G)
Alt rs104893734(G;G)
Reference rs104893734(C;C)
Significance Pathogenic
Disease Endplate acetylcholinesterase deficiency
Variation info
Gene COLQ
CLNDBN Endplate acetylcholinesterase deficiency
Reversed 1
HGVS NC_000003.11:g.15516954G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007029.3,