SSUH2, ssu-2 homolog, 51066

N. diseases: 7; N. variants: 35
Disease: Muscular Dystrophies, Limb-Girdle ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116840777
rs116840777
Entrez Id: 859;51066
Gene Symbol: CAV3;SSUH2
CAV3;SSUH2
CUI: C0686353
Disease:
Muscular Dystrophies, Limb-Girdle 		0.010 GeneticVariation BEFREE In addition, we have identified a novel R125H missense change in one LGMD female patient that was also found in two of her unaffected siblings. 11251997 2001