rs1556425596, COL6A1

N. diseases: 37
Disease: BETHLEM MYOPATHY 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BETHLEM MYOPATHY 1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
0.700 CausalMutation CLINVAR Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 28424332 2017