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rs104893735

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893735(G;T)
Make rs104893735(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position15466437
GeneCOLQ
is asnp
is mentioned by
dbSNPrs104893735
ebirs104893735
HLIrs104893735
Exacrs104893735
Varsomers104893735
Maprs104893735
PheGenIrs104893735
hapmaprs104893735
1000 genomesrs104893735
hgdprs104893735
ensemblrs104893735
gopubmedrs104893735
geneviewrs104893735
scholarrs104893735
googlers104893735
pharmgkbrs104893735
gwascentralrs104893735
openSNPrs104893735
23andMers104893735
23andMe allrs104893735
SNP Nexus

SNPshotrs104893735
SNPdbers104893735
MSV3drs104893735
GWAS Ctlgrs104893735
Max Magnitude0
OMIM603033
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104893735(T;T)
Alt rs104893735(T;T)
Reference rs104893735(G;G)
Significance Pathogenic
Disease Endplate acetylcholinesterase deficiency
Variation info
Gene COLQ
CLNDBN Endplate acetylcholinesterase deficiency
Reversed 1
HGVS NC_000003.11:g.15507944C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007036.4,