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rs749318706

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 De novo mutation seen in a Tourette syndrome proband; implied but unproven association
Make rs749318706(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position168467849
GeneWWC1
is asnp
is mentioned by
dbSNPrs749318706
dbSNP (classic)rs749318706
ClinGenrs749318706
ebirs749318706
HLIrs749318706
Exacrs749318706
Gnomadrs749318706
Varsomers749318706
LitVarrs749318706
Maprs749318706
PheGenIrs749318706
Biobankrs749318706
1000 genomesrs749318706
hgdprs749318706
ensemblrs749318706
geneviewrs749318706
scholarrs749318706
googlers749318706
pharmgkbrs749318706
gwascentralrs749318706
openSNPrs749318706
23andMers749318706
23andMe allrs749318706
SNPshotrs749318706
SNPdbers749318706
MSV3drs749318706
GWAS Ctlgrs749318706
Max Magnitude3

rs749318706 is a rare C>T mutation in the WWC1 gene on chromosome 1 which changes an Arg to a Stop codon.

Although not implicated in any direct way as leading to Tourette syndrome, the rs749318706(T) "stop-gain" mutation is one of two mutations listed in the WWC1 gene in a 2017 publication reporting that de novo likely gene-disrupting (LGD) variants in perhaps 400+ genes are associated with Tourette syndrome. This analysis also reported that of all the genes found to contain such variants, the gene most confidently associated with recurring de novo variants was the WWC1 gene.[PMID 28472652OA-icon.png]