Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834034
rs386834034
TSPAN1 ; POMGNT1
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016