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

rs878945

From SNPedia

Orientationminus
Stabilizedminus
Make rs878945(C;C)
Make rs878945(C;G)
Make rs878945(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position15467820
GeneCOLQ
is asnp
is mentioned by
dbSNPrs878945
ebirs878945
HLIrs878945
Exacrs878945
Varsomers878945
Maprs878945
PheGenIrs878945
hapmaprs878945
1000 genomesrs878945
hgdprs878945
ensemblrs878945
gopubmedrs878945
geneviewrs878945
scholarrs878945
googlers878945
pharmgkbrs878945
gwascentralrs878945
openSNPrs878945
23andMers878945
23andMe allrs878945
SNP Nexus

SNPshotrs878945
SNPdbers878945
MSV3drs878945
GWAS Ctlgrs878945
GMAF0.4793
Max Magnitude
Venter snp
Source plos
Gene COLQ
allele G
frequency
sift
HuRef 1103656032369
Disease Association Defects in COLQ are the cause of end-plate acetylcholinesterase deficiency (EAD) (MIM:603034); also known as congenital myasthenic syndrome type IC (CMS-IC). This rare autosomal recessive disorder is characterized by onset during childhood, generalized weakness, abnormal fatigability on exertion, refrectoriness to acetylcholinesterase drugs, decremental electromyographic response and morphological abnormalities of the neuromuscular junctions.



? (C;C) (C;G) (G;G)