Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886492
rs104886492
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.010 GeneticVariation BEFREE The c.194T>C mutation in HSD17B10 can be identified by the restriction fragment polymorphism analysis, thereby facilitating the screening of this novel mutation in individuals with intellectual disability of unknown etiology and their family members much easier. 22132097

2011