Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518970
rs1057518970
RYR1
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518971
rs1057518971
LMNA
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554301637
rs1554301637
LAMA2
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1562530132
rs1562530132
LAMA2
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1564341846
rs1564341846
POMT1
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1567782714
rs1567782714
ADGRG1
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs542489955
rs542489955
FKBP14 ; LOC105375215
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs746361190
rs746361190
CNTNAP1
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs746438011
rs746438011
SYNE1
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs774919231
rs774919231
RYR1
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs797044988
rs797044988
COL6A3
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs878854379
rs878854379
COL6A3
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		A 0.700 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		CTG 0.700 GeneticVariation CLINVAR