Disease: Generalized hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834034
rs386834034
Entrez Id: 10103;55624
Gene Symbol: TSPAN1;POMGNT1
TSPAN1;POMGNT1
CUI: C1858120
Disease:
Generalized hypotonia 		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