CANT1, calcium activated nucleotidase 1, 124583

N. diseases: 111; N. variants: 19
Disease: Desbuquois syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377546036
rs377546036
Entrez Id: 124583
Gene Symbol: CANT1
CANT1
CUI: C0432242
Disease:
Desbuquois syndrome 		0.020 GeneticVariation BEFREE Previously reported patients with DBQD Kim type had a common mutation c.676G>A (p.Val226Met), which had a common founder between Japanese and Korean. 25486376 2015
dbSNP: rs377546036
rs377546036
Entrez Id: 124583
Gene Symbol: CANT1
CANT1
CUI: C0432242
Disease:
Desbuquois syndrome 		0.020 GeneticVariation BEFREE The c.676G>A mutation of CANT1 commonly seen in Japanese and Korean DBQD should be derived from a common founder. 21412251 2011