Have questions? Visit https://www.reddit.com/r/SNPedia

rs769982050

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs769982050(-;-)
Make rs769982050(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position15456012
GeneCOLQ
is asnp
is mentioned by
dbSNPrs769982050
ebirs769982050
HLIrs769982050
Exacrs769982050
Varsomers769982050
Maprs769982050
PheGenIrs769982050
hapmaprs769982050
1000 genomesrs769982050
hgdprs769982050
ensemblrs769982050
gopubmedrs769982050
geneviewrs769982050
scholarrs769982050
googlers769982050
pharmgkbrs769982050
gwascentralrs769982050
openSNPrs769982050
23andMers769982050
23andMe allrs769982050
SNP Nexus

SNPshotrs769982050
SNPdbers769982050
MSV3drs769982050
GWAS Ctlgrs769982050
Max Magnitude0
ClinVar
Risk rs769982050(;)
Alt rs769982050(;)
Reference rs769982050(G;G)
Significance Pathogenic
Disease Endplate acetylcholinesterase deficiency
Variation info
Gene COLQ
CLNDBN Endplate acetylcholinesterase deficiency
Reversed 0
HGVS NC_000003.11:g.15497519delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000007031.3,