Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515396
rs397515396
CRPPA ; CRPPA-AS1
CUI: C3553330
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		A 0.700 CausalMutation CLINVAR ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. 23288328

2013
dbSNP: rs397515396
rs397515396
CRPPA ; CRPPA-AS1
CUI: C3553330
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		A 0.700 CausalMutation CLINVAR ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. 22522420

2012