Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777669
rs587777669
Entrez Id: 9987
Gene Symbol: HNRNPDL
HNRNPDL
CUI: C1836765
Disease:
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
0.800 GeneticVariation UNIPROT A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 24647604 2014
dbSNP: rs587777669
rs587777669
Entrez Id: 9987
Gene Symbol: HNRNPDL
HNRNPDL
CUI: C1836765
Disease:
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
G 0.800 CausalMutation CLINVAR
dbSNP: rs1553900864
rs1553900864
Entrez Id: 9987
Gene Symbol: HNRNPDL
HNRNPDL
CUI: C1836765
Disease:
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
A 0.700 GeneticVariation CLINVAR